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 KIF1B 0 genome.wustl.edu 37 1 10399860 10399860 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 10399860 10399860 G A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known silent c.3318 p.T1106 0.119 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 51 0 0 58 10 14.7059 DFFA 0 genome.wustl.edu 37 1 10527292 10527292 + Missense_Mutation SNP T T A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 10527292 10527292 T A SNP DFFA ENST00000377038 human ensembl 74_37 -1 known missense c.396 p.K132N 0.020 pfam_DNA_fragmentation_mid_dom,pirsf_DNA_fragmentation_factor_asu pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom - no_errors DFFA HGNC ENSG00000160049 174 0 0 185 36 16.2896 CHI3L2 0 genome.wustl.edu 37 1 111778325 111778325 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 111778325 111778325 C T SNP CHI3L2 ENST00000369748 human ensembl 74_37 +1 known missense c.545 p.A182V 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC ENSG00000064886 114 1 0.869565 83 33 28.4483 NPPA 0 genome.wustl.edu 37 1 11907410 11907410 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 11907410 11907410 C T SNP NPPA ENST00000376480 human ensembl 74_37 -1 known silent c.210 p.A70 0.000 NULL pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC ENSG00000175206 76 0 0 43 19 30.6452 PRAMEF12 0 genome.wustl.edu 37 1 12835687 12835687 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 12835687 12835687 C T SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.289 p.R97W 0.002 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 351 0 0 342 18 5 ANKRD35 0 genome.wustl.edu 37 1 145560139 145560139 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 145560139 145560139 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.625 p.G209R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 101 0 0 90 14 13.4615 FLG 0 genome.wustl.edu 37 1 152279018 152279018 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 152279018 152279018 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8344 p.G2782S 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 998 0 0 944 88 8.52713 FAM189B 0 genome.wustl.edu 37 1 155223695 155223695 + Missense_Mutation SNP T T G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 155223695 155223695 T G SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.468 p.K156N 0.985 pfam_CD20-like pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 50 0 0 57 8 12.3077 SMG5 0 genome.wustl.edu 37 1 156236454 156236454 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 156236454 156236454 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.1133 p.S378N 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 70 0 0 56 9 13.8462 ATP1A2 0 genome.wustl.edu 37 1 160099970 160099970 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 160099970 160099970 C T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1540 p.R514W 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,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 ATP1A2 HGNC ENSG00000018625 165 0 0 128 34 20.9877 ILDR2 0 genome.wustl.edu 37 1 166891981 166891981 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 166891981 166891981 G A SNP ILDR2 ENST00000271417 human ensembl 74_37 -1 known missense c.1060 p.H354Y 1.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 182 0 0 129 47 26.7045 CACNA1E 0 genome.wustl.edu 37 1 181732633 181732633 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 181732633 181732633 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4781 p.R1594H 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 69 0 0 39 12 23.5294 LOC148709 0 genome.wustl.edu 37 1 202842892 202842892 + RNA SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 202842892 202842892 G A SNP LOC148709 ENST00000456105 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors RP11-480I12.7 Clone_based_vega_gene ENSG00000234996 33 0 0 22 6 21.4286 OBSCN 0 genome.wustl.edu 37 1 228444584 228444584 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 228444584 228444584 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.4542 p.C1514 0.985 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 92 0 0 67 24 26.3736 ACTN2 0 genome.wustl.edu 37 1 236902618 236902618 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 236902618 236902618 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.893 p.R298H 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 166 0 0 131 63 32.4742 ZNF362 0 genome.wustl.edu 37 1 33747303 33747303 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 33747303 33747303 G A SNP ZNF362 ENST00000373428 human ensembl 74_37 +1 known missense c.799 p.A267T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 186 0 0 184 27 12.7962 COL8A2 0 genome.wustl.edu 37 1 36563353 36563353 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 36563353 36563353 C T SNP COL8A2 ENST00000303143 human ensembl 74_37 -1 known silent c.1929 p.P643 0.003 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 88 0 0 98 7 6.66667 KDM4A 0 genome.wustl.edu 37 1 44137280 44137280 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 44137280 44137280 G A SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.1468 p.V490M 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 114 0 0 100 38 27.5362 OSBPL9 0 genome.wustl.edu 37 1 52082772 52082772 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 52082772 52082772 C T SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.44 p.A15V 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 15 0 0 14 4 22.2222 CACHD1 0 genome.wustl.edu 37 1 65139147 65139147 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 65139147 65139147 G A SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known silent c.2727 p.A909 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 112 0 0 117 8 6.4 DMBT1 0 genome.wustl.edu 37 10 124359592 124359592 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 10 124359592 124359592 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.3293 p.R1098Q 0.000 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 454 0 0 377 37 8.9372 BICC1 0 genome.wustl.edu 37 10 60573731 60573731 + Missense_Mutation SNP A A G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 10 60573731 60573731 A G SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2518 p.K840E 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 90 0 0 55 26 32.0988 JMJD1C 0 genome.wustl.edu 37 10 64977091 64977091 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 10 64977091 64977091 C A SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.554 p.G185V 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 55 0 0 45 9 16.6667 CRYAB 0 genome.wustl.edu 37 11 111782347 111782347 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 111782347 111782347 C T SNP CRYAB ENST00000227251 human ensembl 74_37 -1 known silent c.102 p.E34 1.000 pfam_Alpha-crystallin_N pfam_Alpha-crystallin_N,pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAB HGNC ENSG00000109846 27 0 0 20 9 31.0345 CCDC153 0 genome.wustl.edu 37 11 119063944 119063944 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 119063944 119063944 C T SNP CCDC153 ENST00000415318 human ensembl 74_37 -1 known missense c.266 p.R89H 0.104 superfamily_t-SNARE superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 60 0 0 49 12 19.6721 PUS3 0 genome.wustl.edu 37 11 125764059 125764059 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 125764059 125764059 G A SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.1067 p.A356V 1.000 NULL pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 105 0 0 72 4 5.26316 OR8H1 0 genome.wustl.edu 37 11 56058005 56058005 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 56058005 56058005 G A SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.534 p.C178 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 79 0 0 27 19 41.3043 MALAT1 0 genome.wustl.edu 37 11 65273753 65273753 + RNA SNP C C G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 65273753 65273753 C G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 54 0 0 29 13 30.9524 EIF3F 0 genome.wustl.edu 37 11 8008920 8008920 + Silent SNP A A G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 8008920 8008920 A G SNP EIF3F ENST00000537635 human ensembl 74_37 +1 known silent c.66 p.P22 0.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3F HGNC ENSG00000175390 194 0 0 78 76 49.3506 CCDC67 0 genome.wustl.edu 37 11 93104248 93104248 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 93104248 93104248 G A SNP CCDC67 ENST00000298050 human ensembl 74_37 +1 known silent c.591 p.Q197 0.087 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 36 0 0 10 10 50 MTMR2 0 genome.wustl.edu 37 11 95580877 95580877 + Splice_Site SNP C C G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 95580877 95580877 C G SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known splice_site c.1179+1 e10+1 1.000 - - - no_errors MTMR2 HGNC ENSG00000087053 82 0 0 67 5 6.94444 HCAR3 0 genome.wustl.edu 37 12 123200189 123200189 + Missense_Mutation SNP A A C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 123200189 123200189 A C SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known missense c.1096 p.S366A 0.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 185 0 0 199 29 12.7193 PDZRN4 0 genome.wustl.edu 37 12 41957359 41957359 + Missense_Mutation SNP G G C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 41957359 41957359 G C SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.1375 p.E459Q 0.945 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 59 0 0 67 6 8.21918 PRPF40B 0 genome.wustl.edu 37 12 50036741 50036741 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 50036741 50036741 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.2147 p.G716D 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 30 0 0 26 8 23.5294 RDH5 0 genome.wustl.edu 37 12 56115030 56115030 + Missense_Mutation SNP G G C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 56115030 56115030 G C SNP RDH5 ENST00000257895 human ensembl 74_37 +1 known missense c.62 p.R21P 0.057 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 134 0 0 147 14 8.69565 MBD6 0 genome.wustl.edu 37 12 57918174 57918174 + Nonsense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 57918174 57918174 C T SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known nonsense c.88 p.R30* 1.000 superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 39 0 0 26 13 33.3333 FAM19A2 0 genome.wustl.edu 37 12 62147508 62147508 + Missense_Mutation SNP T T A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 62147508 62147508 T A SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.279 p.K93N 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 98 0 0 90 9 9.09091 DPY19L2 0 genome.wustl.edu 37 12 63976297 63976297 + Missense_Mutation SNP A A C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 63976297 63976297 A C SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known missense c.1614 p.F538L 0.932 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 33 0 0 35 4 10.2564 KCNC2 0 genome.wustl.edu 37 12 75601380 75601380 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 12 75601380 75601380 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.384 p.D128 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 56 0 0 64 5 7.24638 SACS 0 genome.wustl.edu 37 13 23929289 23929289 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 13 23929289 23929289 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.1462 p.P488S 1.000 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 67 0 0 106 11 9.40171 DCLK1 0 genome.wustl.edu 37 13 36445395 36445395 + Silent SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 13 36445395 36445395 G T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.906 p.S302 0.993 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 191 1 0.520833 184 22 10.6796 DCLK1 0 genome.wustl.edu 37 13 36445396 36445396 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 13 36445396 36445396 G T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.905 p.S302Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 193 0 0 182 23 11.2195 ELF1 0 genome.wustl.edu 37 13 41517138 41517138 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 13 41517138 41517138 C T SNP ELF1 ENST00000239882 human ensembl 74_37 -1 known silent c.756 p.K252 0.997 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF1 HGNC ENSG00000120690 68 0 0 64 49 43.3628 TECPR2 0 genome.wustl.edu 37 14 102931611 102931611 + Silent SNP T T A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 14 102931611 102931611 T A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known silent c.3774 p.I1258 0.992 pfam_Beta-propeller_rpt_TECPR,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 52 0 0 57 14 19.7183 TNFAIP2 0 genome.wustl.edu 37 14 103600064 103600064 + Nonsense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 14 103600064 103600064 G T SNP TNFAIP2 ENST00000333007 human ensembl 74_37 +1 known nonsense c.1747 p.E583* 0.989 pfam_Sec6 pfam_Sec6 - no_errors TNFAIP2 HGNC ENSG00000185215 34 0 0 18 14 43.75 KIF26A 0 genome.wustl.edu 37 14 104641953 104641953 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 14 104641953 104641953 G T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.2828 p.G943V 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 21 0 0 32 2 5.88235 SPTB 0 genome.wustl.edu 37 14 65259772 65259772 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 14 65259772 65259772 C A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.2609 p.W870L 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 68 0 0 51 24 32 SPATA7 0 genome.wustl.edu 37 14 88895764 88895764 + Missense_Mutation SNP T T C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 14 88895764 88895764 T C SNP SPATA7 ENST00000393545 human ensembl 74_37 +1 known missense c.985 p.W329R 0.674 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 76 0 0 76 19 20 LCMT2 0 genome.wustl.edu 37 15 43622422 43622422 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 15 43622422 43622422 C A SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known missense c.266 p.G89V 1.000 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 47 0 0 27 26 49.0566 ACAN 0 genome.wustl.edu 37 15 89382194 89382194 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 15 89382194 89382194 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.371 p.R124H 0.994 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,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 - no_errors ACAN HGNC ENSG00000157766 189 0 0 176 26 12.8713 TPSD1 0 genome.wustl.edu 37 16 1306318 1306318 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 1306318 1306318 C T SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known silent c.37 p.L13 0.028 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 98 0 0 104 8 7.14286 BAIAP3 0 genome.wustl.edu 37 16 1398100 1398100 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 1398100 1398100 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.3258 p.S1086 0.798 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 45 0 0 42 19 31.1475 CCDC101 0 genome.wustl.edu 37 16 28602110 28602110 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 28602110 28602110 C T SNP CCDC101 ENST00000317058 human ensembl 74_37 +1 known missense c.619 p.R207W 0.996 pfam_SGF29_tudor-like_dom pfam_SGF29_tudor-like_dom - no_errors CCDC101 HGNC ENSG00000176476 60 0 0 49 42 46.1538 ZSCAN10 0 genome.wustl.edu 37 16 3139286 3139286 + Nonsense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 3139286 3139286 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known nonsense c.1984 p.Q662* 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 21 0 0 17 6 26.087 ITGAD 0 genome.wustl.edu 37 16 31435274 31435274 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 31435274 31435274 C T SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.3154 p.R1052C 0.996 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 41 0 0 29 8 21.6216 NLRC3 0 genome.wustl.edu 37 16 3613636 3613636 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 3613636 3613636 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.1443 p.P481 0.181 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 29 0 0 23 12 34.2857 CREBBP 0 genome.wustl.edu 37 16 3779597 3779597 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 3779597 3779597 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.5451 p.P1817 0.041 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 165 0 0 143 41 22.2826 ZNF500 0 genome.wustl.edu 37 16 4802675 4802675 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 4802675 4802675 G A SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.1145 p.P382L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 27 0 0 27 12 30.7692 CDH16 0 genome.wustl.edu 37 16 66946243 66946243 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 66946243 66946243 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.1450 p.R484C 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 109 0 0 120 18 13.0435 PLEKHG4 0 genome.wustl.edu 37 16 67321045 67321045 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 67321045 67321045 C T SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.3068 p.S1023F 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 71 0 0 52 16 23.5294 FAM92B 0 genome.wustl.edu 37 16 85143910 85143910 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 85143910 85143910 G A SNP FAM92B ENST00000539556 human ensembl 74_37 -1 known silent c.177 p.S59 0.018 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 84 0 0 76 28 26.9231 ZC3H18 0 genome.wustl.edu 37 16 88643772 88643772 + Nonsense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 88643772 88643772 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known nonsense c.241 p.Q81* 0.907 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 38 0 0 24 12 33.3333 TSR1 0 genome.wustl.edu 37 17 2236864 2236864 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 2236864 2236864 C T SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known silent c.1128 p.L376 0.978 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 86 0 0 102 27 20.9302 TAOK1 0 genome.wustl.edu 37 17 27807468 27807468 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 27807468 27807468 C A SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.532 p.P178T 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,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 29 0 0 29 22 43.1373 MRM1 0 genome.wustl.edu 37 17 34958585 34958585 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 34958585 34958585 C T SNP MRM1 ENST00000250156 human ensembl 74_37 +1 known missense c.346 p.H116Y 1.000 pfam_SpoU_subst-bd,smart_SpoU_subst-bd,tigrfam_rRNA_MeTrfase_TrmH pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd,tigrfam_rRNA_MeTrfase_TrmH - no_errors MRM1 HGNC ENSG00000129282 67 0 0 76 7 8.43373 KCNH6 0 genome.wustl.edu 37 17 61613084 61613084 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 61613084 61613084 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.1156 p.V386I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 41 0 0 44 30 40.5405 GH2 0 genome.wustl.edu 37 17 61958860 61958860 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 61958860 61958860 G A SNP GH2 ENST00000332800 human ensembl 74_37 -1 known silent c.30 p.L10 0.987 pfam_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 144 1 0.689655 141 50 26.178 EXOC7 0 genome.wustl.edu 37 17 74080608 74080608 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 74080608 74080608 G A SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.1919 p.P640L 0.997 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 39 0 0 67 12 15.1899 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 65 0 0 9 54 85.7143 MAPK4 0 genome.wustl.edu 37 18 48255791 48255791 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 18 48255791 48255791 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.1331 p.R444H 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 MAPK4 HGNC ENSG00000141639 12 0 0 0 5 100 SMAD4 0 genome.wustl.edu 37 18 48604674 48604674 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 18 48604674 48604674 G A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1496 p.C499Y 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 94 0 0 49 17 25.7576 SUGP2 0 genome.wustl.edu 37 19 19141867 19141867 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 19141867 19141867 C T SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.14 p.R5Q 0.978 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 168 1 0.591716 152 56 26.9231 RPSAP58 0 genome.wustl.edu 37 19 24010155 24010155 + Silent SNP T T A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 24010155 24010155 T A SNP RPSAP58 ENST00000354585 human ensembl 74_37 +1 known silent c.192 p.A64 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 29 0 0 47 4 7.84314 ZC3H4 0 genome.wustl.edu 37 19 47569645 47569645 + Missense_Mutation SNP A A G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 47569645 47569645 A G SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.3880 p.F1294L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 12 0 0 18 6 25 CEACAM18 0 genome.wustl.edu 37 19 51981863 51981863 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 51981863 51981863 G A SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known silent c.150 p.E50 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 25 0 0 18 8 30.7692 MIR522 0 genome.wustl.edu 37 19 54254543 54254543 + RNA SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 54254543 54254543 G A SNP MIR522 ENST00000385071 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors MIR522 HGNC ENSG00000207806 90 0 0 52 45 46.3918 NLRP12 0 genome.wustl.edu 37 19 54307212 54307212 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 54307212 54307212 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.2579 p.T860I 0.010 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 50 0 0 38 15 28.3019 PEG3 0 genome.wustl.edu 37 19 57325863 57325863 + Missense_Mutation SNP G G C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 57325863 57325863 G C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3947 p.T1316S 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 90 0 0 64 6 8.57143 ZNF547 0 genome.wustl.edu 37 19 57889486 57889486 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 57889486 57889486 G A SNP ZNF547 ENST00000282282 human ensembl 74_37 +1 known missense c.1142 p.S381N 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF547 HGNC ENSG00000152433 51 0 0 35 21 37.5 PTBP1 0 genome.wustl.edu 37 19 805530 805530 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 805530 805530 G A SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.931 p.A311T 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 244 0 0 122 26 17.5676 HIBCH 0 genome.wustl.edu 37 2 191161620 191161620 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 191161620 191161620 C T SNP HIBCH ENST00000359678 human ensembl 74_37 -1 known silent c.138 p.T46 0.972 NULL pfam_Crotonase_core_superfam - no_errors HIBCH HGNC ENSG00000198130 65 0 0 50 9 15.2542 CTLA4 0 genome.wustl.edu 37 2 204735610 204735610 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 204735610 204735610 G A SNP CTLA4 ENST00000302823 human ensembl 74_37 +1 known silent c.411 p.P137 0.146 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 - no_errors CTLA4 HGNC ENSG00000163599 65 0 0 25 26 50.9804 APOB 0 genome.wustl.edu 37 2 21230333 21230333 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 21230333 21230333 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.9407 p.R3136H 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 108 0 0 136 14 9.33333 CAD 0 genome.wustl.edu 37 2 27454962 27454962 + Nonsense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 27454962 27454962 C T SNP CAD ENST00000264705 human ensembl 74_37 +1 known nonsense c.2515 p.R839* 0.926 pfam_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_lsu_oligo,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 92 0 0 79 60 43.1655 C2orf16 0 genome.wustl.edu 37 2 27801051 27801051 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 27801051 27801051 G A SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.1612 p.E538K 0.008 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 61 0 0 64 12 15.7895 MYADML 0 genome.wustl.edu 37 2 33952443 33952443 + RNA SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 33952443 33952443 C T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors MYADML HGNC ENSG00000239649 15 0 0 6 7 53.8462 KIDINS220 0 genome.wustl.edu 37 2 8870881 8870881 + Missense_Mutation SNP C C G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 8870881 8870881 C G SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.5285 p.G1762A 0.928 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 73 0 0 76 26 25.4902 CD93 0 genome.wustl.edu 37 20 23066171 23066171 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 20 23066171 23066171 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.659 p.A220V 0.000 pirsf_CD93/CD141 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 100 1 0.990099 110 17 13.3858 BPIFA1 0 genome.wustl.edu 37 20 31828172 31828172 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 20 31828172 31828172 C A SNP BPIFA1 ENST00000354297 human ensembl 74_37 +1 known missense c.562 p.Q188K 0.014 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 252 1 0.395257 301 30 9.06344 ZNF341 0 genome.wustl.edu 37 20 32341059 32341059 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 20 32341059 32341059 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.571 p.P191S 0.966 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 43 0 0 53 34 39.0805 LBP 0 genome.wustl.edu 37 20 36975024 36975024 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 20 36975024 36975024 C T SNP LBP ENST00000217407 human ensembl 74_37 +1 known silent c.105 p.T35 0.656 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors LBP HGNC ENSG00000129988 90 0 0 99 10 9.17431 TOP1 0 genome.wustl.edu 37 20 39728846 39728846 + Nonsense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 20 39728846 39728846 C T SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known nonsense c.1126 p.R376* 0.993 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 57 0 0 77 23 23 MORC3 0 genome.wustl.edu 37 21 37721648 37721648 + Missense_Mutation SNP T T G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 21 37721648 37721648 T G SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.1045 p.C349G 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 52 0 0 49 3 5.76923 PSMG1 0 genome.wustl.edu 37 21 40555269 40555269 + Missense_Mutation SNP G G C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 21 40555269 40555269 G C SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known missense c.43 p.R15G 1.000 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 14 0 0 5 4 44.4444 CCDC116 0 genome.wustl.edu 37 22 21988517 21988517 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 22 21988517 21988517 G A SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.279 p.A93 0.009 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 97 0 0 77 31 28.7037 MN1 0 genome.wustl.edu 37 22 28193748 28193748 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 22 28193748 28193748 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.2784 p.S928 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 18 0 0 11 7 38.8889 SREBF2 0 genome.wustl.edu 37 22 42271599 42271599 + Silent SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 22 42271599 42271599 G T SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known silent c.1257 p.L419 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 198 0 0 236 67 22.1122 PHLDB2 0 genome.wustl.edu 37 3 111603367 111603367 + Missense_Mutation SNP A A G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 111603367 111603367 A G SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.443 p.Y148C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 152 0 0 132 60 31.25 KBTBD12 0 genome.wustl.edu 37 3 127649085 127649085 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 127649085 127649085 G T SNP KBTBD12 ENST00000405109 human ensembl 74_37 +1 known missense c.1451 p.R484L 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 30 0 0 26 3 10.3448 MED12L 0 genome.wustl.edu 37 3 151073819 151073819 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 151073819 151073819 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.2548 p.A850T 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 73 0 0 54 20 27.027 BCHE 0 genome.wustl.edu 37 3 165503997 165503997 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 165503997 165503997 C T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.1620 p.T540 0.001 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 61 0 0 45 23 33.8235 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 65 0 0 67 13 16.25 HTR3E 0 genome.wustl.edu 37 3 183823112 183823112 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 183823112 183823112 G A SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.662 p.R221Q 0.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 72 0 0 38 20 34.4828 EIF4G1 0 genome.wustl.edu 37 3 184041232 184041232 + Nonsense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 184041232 184041232 C T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known nonsense c.2146 p.R716* 0.915 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 345 0 0 279 96 25.6 FGF12 0 genome.wustl.edu 37 3 191861866 191861866 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 191861866 191861866 G A SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.664 p.R222C 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 216 0 0 144 73 33.6406 THRB 0 genome.wustl.edu 37 3 24185037 24185037 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 24185037 24185037 C T SNP THRB ENST00000356447 human ensembl 74_37 -1 known silent c.693 p.A231 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 153 0 0 140 44 23.913 GOLGA4 0 genome.wustl.edu 37 3 37368302 37368302 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 37368302 37368302 G T SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.4925 p.R1642I 0.992 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 105 0 0 96 11 10.2804 TRAK1 0 genome.wustl.edu 37 3 42264549 42264549 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 42264549 42264549 C T SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.2008 p.R670C 0.960 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 83 0 0 46 27 36.9863 ITPR1 0 genome.wustl.edu 37 3 4699844 4699844 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 4699844 4699844 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.988 p.R330W 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 115 0 0 59 47 44.3396 BSN 0 genome.wustl.edu 37 3 49691693 49691693 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 49691693 49691693 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.4704 p.Q1568 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 78 0 0 37 32 46.3768 SEMA3F 0 genome.wustl.edu 37 3 50220987 50220987 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 3 50220987 50220987 G A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.1223 p.R408Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 57 0 0 72 18 20 TAPT1-AS1 0 genome.wustl.edu 37 4 16258166 16258166 + RNA SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 4 16258166 16258166 C T SNP TAPT1-AS1 ENST00000570786 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TAPT1-AS1 HGNC ENSG00000263327 23 0 0 16 7 30.4348 P4HA2 0 genome.wustl.edu 37 5 131530693 131530693 + Missense_Mutation SNP T T C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 131530693 131530693 T C SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.1463 p.N488S 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 91 0 0 47 5 9.61538 PCDHA4 0 genome.wustl.edu 37 5 140188676 140188676 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 140188676 140188676 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1904 p.R635H 0.912 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 116 1 0.854701 43 46 51.6854 PCDHA6 0 genome.wustl.edu 37 5 140207964 140207964 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 140207964 140207964 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.288 p.C96 0.997 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 389 1 0.25641 87 130 59.9078 PCDHGA6 0 genome.wustl.edu 37 5 140755558 140755558 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 140755558 140755558 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1908 p.D636 0.003 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 PCDHGA6 HGNC ENSG00000253731 111 0 0 78 9 10.3448 TCOF1 0 genome.wustl.edu 37 5 149754631 149754631 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 149754631 149754631 C A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.1393 p.Q465K 0.545 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 56 0 0 32 3 8.57143 FAT2 0 genome.wustl.edu 37 5 150907625 150907625 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 150907625 150907625 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10096 p.L3366I 0.906 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 159 1 0.625 26 62 70.4545 GRIA1 0 genome.wustl.edu 37 5 153190663 153190663 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 153190663 153190663 G T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.2629 p.A877S 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 81 0 0 25 28 52.8302 FTH1P10 0 genome.wustl.edu 37 5 17354008 17354008 + RNA SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 17354008 17354008 G T SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC ENSG00000223361 50 0 0 32 2 5.88235 RASA1 0 genome.wustl.edu 37 5 86672329 86672329 + Nonsense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 86672329 86672329 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known nonsense c.2131 p.R711* 1.000 superfamily_C2_dom,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 59 0 0 27 5 15.625 MCHR2 0 genome.wustl.edu 37 6 100390958 100390958 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 100390958 100390958 G A SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known missense c.454 p.R152W 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 125 0 0 210 15 6.66667 GPR126 0 genome.wustl.edu 37 6 142721726 142721726 + Silent SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 142721726 142721726 C A SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known silent c.1672 p.R558 0.036 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 18 0 0 33 4 10.8108 SYNE1 0 genome.wustl.edu 37 6 152651740 152651740 + Missense_Mutation SNP A A T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 152651740 152651740 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.14080 p.F4694I 1.000 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 45 0 0 51 10 16.3934 OR10C1 0 genome.wustl.edu 37 6 29408180 29408180 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 29408180 29408180 C T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.388 p.R130C 0.898 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 82 0 0 74 26 26 ARMC12 0 genome.wustl.edu 37 6 35705852 35705852 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 35705852 35705852 G A SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.293 p.R98Q 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 102 1 0.970874 106 52 32.9114 UNC5CL 0 genome.wustl.edu 37 6 41001837 41001837 + Missense_Mutation SNP G G C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 41001837 41001837 G C SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known missense c.469 p.Q157E 0.967 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 59 0 0 168 19 10.1604 GPR116 0 genome.wustl.edu 37 6 46823761 46823761 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 46823761 46823761 G A SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3911 p.S1304F 1.000 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 48 0 0 64 15 18.9873 CRISP3 0 genome.wustl.edu 37 6 49698923 49698923 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 49698923 49698923 C A SNP CRISP3 ENST00000433368 human ensembl 74_37 -1 known missense c.632 p.G211V 0.693 superfamily_CAP_domain pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP3 HGNC ENSG00000096006 98 0 0 77 54 41.2214 TTK 0 genome.wustl.edu 37 6 80751871 80751871 + Silent SNP T T C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 80751871 80751871 T C SNP TTK ENST00000369798 human ensembl 74_37 +1 known silent c.2526 p.H842 0.968 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 TTK HGNC ENSG00000112742 82 0 0 91 25 21.5517 ZAN 0 genome.wustl.edu 37 7 100350655 100350655 + Missense_Mutation SNP T T G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 100350655 100350655 T G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2927 p.L976R 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 126 1 0.787402 109 112 50.6787 EPHB4 0 genome.wustl.edu 37 7 100417377 100417377 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 100417377 100417377 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.1099 p.G367R 0.255 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 15 0 0 15 8 34.7826 ETV1 0 genome.wustl.edu 37 7 13971291 13971291 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 13971291 13971291 C T SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known missense c.638 p.R213H 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 53 0 0 50 17 25.3731 ZNF282 0 genome.wustl.edu 37 7 148921431 148921431 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 148921431 148921431 G A SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.1708 p.G570S 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 46 0 0 16 18 52.9412 ACTR3C 0 genome.wustl.edu 37 7 149990467 149990467 + Silent SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 149990467 149990467 C A SNP ACTR3C ENST00000252071 human ensembl 74_37 -1 known silent c.87 p.V29 0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3C HGNC ENSG00000106526 30 0 0 29 2 6.45161 FASTK 0 genome.wustl.edu 37 7 150775086 150775086 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 150775086 150775086 C T SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.919 p.E307K 1.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 140 0 0 66 38 36.5385 PRKAG2 0 genome.wustl.edu 37 7 151254294 151254294 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 151254294 151254294 G A SNP PRKAG2 ENST00000287878 human ensembl 74_37 -1 known missense c.1703 p.T568M 0.527 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 344 0 0 185 180 49.3151 AGMO 0 genome.wustl.edu 37 7 15470727 15470727 + Missense_Mutation SNP T T A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 15470727 15470727 T A SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.416 p.N139I 1.000 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 49 0 0 64 8 11.1111 DNAH11 0 genome.wustl.edu 37 7 21779199 21779199 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 21779199 21779199 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.7843 p.Q2615K 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH11 HGNC ENSG00000105877 69 0 0 53 41 43.617 KLHL7 0 genome.wustl.edu 37 7 23205329 23205329 + Missense_Mutation SNP A A G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 23205329 23205329 A G SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.949 p.T317A 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 55 0 0 58 16 21.6216 USP42 0 genome.wustl.edu 37 7 6175524 6175524 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 6175524 6175524 G T SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.495 p.Q165H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 34 0 0 38 3 7.31707 SEMA3D 0 genome.wustl.edu 37 7 84629053 84629053 + Silent SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 84629053 84629053 C A SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known silent c.2037 p.L679 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 60 0 0 90 10 10 ZFPM2 0 genome.wustl.edu 37 8 106815221 106815221 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 106815221 106815221 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2911 p.A971T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 30 0 0 40 4 9.09091 ZFPM2 0 genome.wustl.edu 37 8 106815238 106815238 + Silent SNP A A G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 106815238 106815238 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.2928 p.K976 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 30 0 0 43 4 8.51064 ZFPM2 0 genome.wustl.edu 37 8 106815458 106815458 + Nonsense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 106815458 106815458 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known nonsense c.3148 p.Q1050* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 40 0 0 65 5 7.14286 MTBP 0 genome.wustl.edu 37 8 121530251 121530251 + Missense_Mutation SNP G G C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 121530251 121530251 G C SNP MTBP ENST00000305949 human ensembl 74_37 +1 known missense c.2407 p.A803P 0.001 NULL NULL - no_errors MTBP HGNC ENSG00000172167 67 0 0 108 16 12.9032 FER1L6-AS2 0 genome.wustl.edu 37 8 125072955 125072955 + RNA SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 125072955 125072955 G A SNP FER1L6-AS2 ENST00000520031 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors FER1L6-AS2 HGNC ENSG00000253868 90 0 0 110 32 22.5352 SDAD1P1 0 genome.wustl.edu 37 8 26237332 26237332 + RNA SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 26237332 26237332 C T SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.959 - - - no_errors SDAD1P1 HGNC ENSG00000228451 76 0 0 56 27 32.5301 TOX 0 genome.wustl.edu 37 8 59750664 59750664 + Silent SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 59750664 59750664 G A SNP TOX ENST00000361421 human ensembl 74_37 -1 known silent c.900 p.D300 0.996 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 124 0 0 154 38 19.7917 CLVS1 0 genome.wustl.edu 37 8 62212794 62212794 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 8 62212794 62212794 C T SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known silent c.408 p.Y136 0.825 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran 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 CLVS1 HGNC ENSG00000177182 58 0 0 52 40 43.4783 TGFBR1 0 genome.wustl.edu 37 9 101904870 101904870 + Silent SNP A A T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 9 101904870 101904870 A T SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known silent c.858 p.G286 0.947 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 133 0 0 77 26 25.2427 CYLC2 0 genome.wustl.edu 37 9 105767016 105767016 + Missense_Mutation SNP C C A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 9 105767016 105767016 C A SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.220 p.P74T 0.927 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 53 0 0 34 3 8.10811 ZFP37 0 genome.wustl.edu 37 9 115818962 115818962 + Missense_Mutation SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 9 115818962 115818962 C T SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.7 p.V3I 0.756 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 ZFP37 HGNC ENSG00000136866 93 0 0 52 27 34.1772 JAK2 0 genome.wustl.edu 37 9 5089674 5089674 + Missense_Mutation SNP G G A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 9 5089674 5089674 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.2572 p.G858S 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 87 0 0 76 8 9.52381 RFK 0 genome.wustl.edu 37 9 79002415 79002415 + Missense_Mutation SNP A A G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 9 79002415 79002415 A G SNP RFK ENST00000376736 human ensembl 74_37 -1 known missense c.368 p.I123T 1.000 pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk - no_errors RFK HGNC ENSG00000135002 132 0 0 90 34 27.4194 XKRX 0 genome.wustl.edu 37 X 100178029 100178029 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 100178029 100178029 C T SNP XKRX ENST00000328526 human ensembl 74_37 -1 known silent c.396 p.K132 0.999 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 148 0 0 138 21 13.2075 KIAA1210 0 genome.wustl.edu 37 X 118223121 118223121 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 118223121 118223121 G T SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.2072 p.A691D 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 60 0 0 56 19 25.3333 RAP2C 0 genome.wustl.edu 37 X 131351389 131351389 + RNA SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 131351389 131351389 C T SNP RAP2C ENST00000460462 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RAP2C HGNC ENSG00000123728 80 0 0 55 25 31.25 ABCD1 0 genome.wustl.edu 37 X 153008476 153008476 + Missense_Mutation SNP T T C TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 153008476 153008476 T C SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.1816 p.S606P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 23 0 0 17 5 22.7273 NR0B1 0 genome.wustl.edu 37 X 30326860 30326860 + Silent SNP C C T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 30326860 30326860 C T SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known silent c.621 p.P207 0.156 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 16 0 0 10 6 37.5 CASK 0 genome.wustl.edu 37 X 41446216 41446216 + Missense_Mutation SNP G G T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 41446216 41446216 G T SNP CASK ENST00000378163 human ensembl 74_37 -1 known missense c.1258 p.P420T 1.000 pfam_L27_C,smart_L27,pfscan_L27 pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 45 0 0 36 3 7.69231 LAS1L 0 genome.wustl.edu 37 X 64754491 64754491 + Silent SNP T T G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 64754491 64754491 T G SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known silent c.105 p.P35 0.003 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 13 0 0 11 10 47.619 PTPN7 0 genome.wustl.edu 37 1 202121712 202121712 + Frame_Shift_Del DEL G G - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 1 202121712 202121712 G - DEL PTPN7 ENST00000309017 human ensembl 74_37 -1 known frame_shift_del c.1148 p.P383fs 0.003 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 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 42 0 0 43 9 17.3077 E2F8 0 genome.wustl.edu 37 11 19252213 19252213 + Frame_Shift_Del DEL T T - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 11 19252213 19252213 T - DEL E2F8 ENST00000250024 human ensembl 74_37 -1 known frame_shift_del c.1235 p.N412fs 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 123 0 0 74 19 20.4301 KIF26A 0 genome.wustl.edu 37 14 104639830 104639831 + In_Frame_Ins INS - - GAC TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 14 104639830 104639831 - GAC INS KIF26A ENST00000423312 human ensembl 74_37 +1 known in_frame_ins c.1847_1848 p.617in_frame_insT 1.000:1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 12 0 0 17 6 26.087 BRMS1L 0 genome.wustl.edu 37 14 36300638 36300640 + In_Frame_Del DEL AAG AAG - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 14 36300638 36300640 AAG - DEL BRMS1L ENST00000216807 human ensembl 74_37 +1 known in_frame_del c.165_167 p.R58in_frame_del 1.000:1.000:1.000 NULL pfam_Sds3 - no_errors BRMS1L HGNC ENSG00000100916 103 0 0 82 12 12.766 ZFP1 0 genome.wustl.edu 37 16 75203864 75203865 + Frame_Shift_Ins INS - - CACAG TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 75203864 75203865 - CACAG INS ZFP1 ENST00000393430 human ensembl 74_37 +1 known frame_shift_ins c.856_857 p.H286fs 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP1 HGNC ENSG00000184517 49 0 0 34 17 33.3333 SNAI3 0 genome.wustl.edu 37 16 88747615 88747616 + In_Frame_Ins INS - - GGC TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 16 88747615 88747616 - GGC INS SNAI3 ENST00000332281 human ensembl 74_37 -1 known in_frame_ins c.584_583 p.195in_frame_insR 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 175 0 0 160 36 18.3673 SEPT9 0 genome.wustl.edu 37 17 75483600 75483600 + Frame_Shift_Del DEL C C - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 17 75483600 75483600 C - DEL SEPT9 ENST00000427177 human ensembl 74_37 +1 known frame_shift_del c.1008 p.K338fs 1.000 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 34 0 0 52 10 16.129 SMAD4 0 genome.wustl.edu 37 18 48593481 48593482 + Frame_Shift_Ins INS - - T TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 18 48593481 48593482 - T INS SMAD4 ENST00000342988 human ensembl 74_37 +1 known frame_shift_ins c.1232_1233 p.Y412fs 1.000:1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 71 0 0 33 19 36.5385 PAF1 0 genome.wustl.edu 37 19 39879402 39879404 + In_Frame_Del DEL CTA CTA - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 CTA CTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 39879402 39879404 CTA - DEL PAF1 ENST00000221265 human ensembl 74_37 -1 known in_frame_del c.740_738 p.IR246in_frame_delM 1.000:1.000:1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 98 0 0 65 9 12.1622 SAFB2 0 genome.wustl.edu 37 19 5622607 5622621 + In_Frame_Del DEL CGCCCGCAGATCGAT CGCCCGCAGATCGAT - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 CGCCCGCAGATCGAT CGCCCGCAGATCGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 19 5622607 5622621 CGCCCGCAGATCGAT - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known in_frame_del c.120_106 p.IDLRA36in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.987:1.000:1.000:1.000:1.000:1.000 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 19 0 0 4 4 50 COL6A3 0 genome.wustl.edu 37 2 238280465 238280466 + Frame_Shift_Ins INS - - G TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 2 238280465 238280466 - G INS COL6A3 ENST00000295550 human ensembl 74_37 -1 known frame_shift_ins c.4195_4194 p.S1398fs 0.987:0.977 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 108 0 0 91 17 15.7407 TRIO 0 genome.wustl.edu 37 5 14389501 14389503 + In_Frame_Del DEL ATA ATA - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 5 14389501 14389503 ATA - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known in_frame_del c.4052_4054 p.N1353in_frame_del 1.000:0.802:0.988 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 15 0 0 7 4 36.3636 ARHGAP18 0 genome.wustl.edu 37 6 129937433 129937434 + Frame_Shift_Ins INS - - A TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 6 129937433 129937434 - A INS ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known frame_shift_ins c.968_967 p.C323fs 1.000:1.000 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 67 0 0 95 15 13.6364 PTN 0 genome.wustl.edu 37 7 136938377 136938377 + Frame_Shift_Del DEL T T - TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f 7 136938377 136938377 T - DEL PTN ENST00000348225 human ensembl 74_37 -1 known frame_shift_del c.123 p.V42fs 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 27 0 0 29 7 19.4444 CD99L2 0 genome.wustl.edu 37 X 149937525 149937526 + In_Frame_Ins INS - - GGC TCGA-D7-6815-01A-11D-1882-08 TCGA-D7-6815-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9536f736-63bc-4099-bd54-740f5910f4a8 033f45f0-c6fd-496e-8bf4-214102be013f X 149937525 149937526 - GGC INS CD99L2 ENST00000370377 human ensembl 74_37 -1 known in_frame_ins c.771_770 p.258in_frame_insP 0.000:0.002 NULL pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 223 0 0 272 16 5.55556