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 ACACB 0 genome.wustl.edu 37 12 109692128 109692128 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 109692128 109692128 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.6155 p.R2052K 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 233 0 0.00 175 24 12.00 ACAD9 0 genome.wustl.edu 37 3 128628926 128628926 + Frame_Shift_Del DEL C C - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 128628926 128628926 C - DEL ACAD9 ENST00000308982 human ensembl 74_37 +1 known frame_shift_del c.1626 p.M543fs 1.000 superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 tier1 31 0 0.00 37 2 5.13 AHDC1 0 genome.wustl.edu 37 1 27874148 27874148 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 27874148 27874148 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.4479 p.G1493 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 21 0 0.00 17 2 10.53 AKAP6 0 genome.wustl.edu 37 14 33291387 33291387 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 33291387 33291387 A C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.4368 p.E1456D 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 36 0 0.00 31 8 20.51 ANK1 0 genome.wustl.edu 37 8 41526051 41526051 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 41526051 41526051 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.5128 p.V1710I 0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 78 0 0.00 44 20 31.25 ANKRD33 0 genome.wustl.edu 37 12 52282975 52282975 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 52282975 52282975 A G SNP ANKRD33 ENST00000340970 human ensembl 74_37 +1 known missense c.116 p.Q39R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 tier1 - - 131 0 0.00 118 10 7.81 APOB 0 genome.wustl.edu 37 2 21249694 21249694 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 21249694 21249694 T A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.2210 p.H737L 1.000 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell 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 tier1 - - 127 0 0.00 87 16 15.53 ARHGEF9 0 genome.wustl.edu 37 X 62944558 62944558 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 62944558 62944558 C T SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known missense c.43 p.A15T 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 tier1 - - 53 0 0.00 38 11 22.45 ATP10A 0 genome.wustl.edu 37 15 25963457 25963457 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 25963457 25963457 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1453 p.G485S 0.712 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 33 0 0.00 32 4 11.11 ATXN1 0 genome.wustl.edu 37 6 16326661 16326661 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 16326661 16326661 G A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.1881 p.A627 0.574 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 tier1 - - 124 0 0.00 62 11 15.07 BDNF 0 genome.wustl.edu 37 11 27679558 27679558 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 27679558 27679558 T C SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.800 p.K267R 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 tier1 - - 235 0 0.00 203 18 8.14 BICC1 0 genome.wustl.edu 37 10 60560796 60560796 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 60560796 60560796 T G SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2005 p.S669A 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 tier1 - - 64 0 0.00 27 9 25.00 BICC1 0 genome.wustl.edu 37 10 60566912 60566912 + Silent SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 60566912 60566912 T A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.2370 p.T790 0.332 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 tier1 - - 133 0 0.00 73 8 9.88 BNC1 0 genome.wustl.edu 37 15 83935597 83935597 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 83935597 83935597 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known silent c.426 p.Y142 0.046 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 120 0 0.00 77 8 9.41 CACHD1 0 genome.wustl.edu 37 1 65098384 65098384 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 65098384 65098384 C T SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known silent c.747 p.D249 0.840 pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 tier1 - - 58 0 0.00 55 9 14.06 CAMTA1 0 genome.wustl.edu 37 1 7151399 7151399 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 7151399 7151399 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.270 p.H90 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 rs146654528 - 54 0 0.00 41 8 16.33 CASQ1 0 genome.wustl.edu 37 1 160160587 160160587 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 160160587 160160587 C T SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.46 p.R16W 0.968 pfam_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 51 0 0.00 45 4 8.16 CCKBR 0 genome.wustl.edu 37 11 6291982 6291982 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 6291982 6291982 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.760 p.D254N 0.437 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 92 0 0.00 52 16 23.53 CCNA1 0 genome.wustl.edu 37 13 37016441 37016441 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 37016441 37016441 A G SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.1346 p.K449R 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 tier1 - - 81 0 0.00 43 11 20.37 CLCA2 0 genome.wustl.edu 37 1 86900342 86900342 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 86900342 86900342 C T SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.886 p.L296F 0.916 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 tier1 - - 122 0 0.00 111 9 7.50 COL22A1 0 genome.wustl.edu 37 8 139601449 139601449 + RNA SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 139601449 139601449 T G SNP COL22A1 ENST00000341807 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 21 0 0.00 13 7 35.00 CREBZF 0 genome.wustl.edu 37 11 85375742 85375742 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 85375742 85375742 C T SNP CREBZF ENST00000525639 human ensembl 74_37 -1 known missense c.178 p.E60K 0.788 NULL pfam_bZIP - no_errors CREBZF HGNC ENSG00000137504 tier1 - - 96 0 0.00 76 11 12.64 CSMD3 0 genome.wustl.edu 37 8 113871376 113871376 + Nonsense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 113871376 113871376 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.1753 p.K585* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 87 0 0.00 80 6 6.90 CST5 0 genome.wustl.edu 37 20 23856831 23856831 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 23856831 23856831 T G SNP CST5 ENST00000304710 human ensembl 74_37 -1 known missense c.423 p.K141N 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST5 HGNC ENSG00000170367 tier1 - - 102 0 0.00 52 28 35.00 CTNNA2 0 genome.wustl.edu 37 2 80085262 80085262 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 80085262 80085262 C A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.524 p.A175E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 93 0 0.00 52 12 18.75 CTNNA2 0 genome.wustl.edu 37 2 80646693 80646693 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 80646693 80646693 A G SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1359 p.Q453 0.997 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 88 0 0.00 58 6 9.38 DAGLA 0 genome.wustl.edu 37 11 61487655 61487655 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 61487655 61487655 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.28 p.R10C 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 110 0 0.00 105 7 6.25 DEFB115 0 genome.wustl.edu 37 20 29845528 29845528 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 29845528 29845528 T G SNP DEFB115 ENST00000400552 human ensembl 74_37 +1 known missense c.62 p.V21G 0.174 NULL NULL - no_errors DEFB115 HGNC ENSG00000215547 tier1 - - 110 0 0.00 63 7 10.00 DISC1 0 genome.wustl.edu 37 1 231885787 231885787 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 231885787 231885787 A G SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known silent c.1233 p.Q411 0.350 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 tier1 - - 113 0 0.00 86 11 11.34 DMD 0 genome.wustl.edu 37 X 32472905 32472905 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 32472905 32472905 A G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.3477 p.T1159 0.906 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 70 0 0.00 57 8 12.31 EEF2 0 genome.wustl.edu 37 19 3977945 3977945 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 3977945 3977945 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1939 p.R647C 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 tier1 - - 68 0 0.00 55 12 17.91 EIF2AK3 0 genome.wustl.edu 37 2 88890104 88890104 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 88890104 88890104 G C SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1022 p.S341C 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 tier1 - - 39 0 0.00 32 4 11.11 EIF2AK3 0 genome.wustl.edu 37 2 88890409 88890409 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 88890409 88890409 A C SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.929 p.I310R 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 tier1 - - 166 0 0.00 132 7 5.04 EIF3J 0 genome.wustl.edu 37 15 44829395 44829397 + In_Frame_Del DEL GGC GGC - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 44829395 44829397 GGC - DEL EIF3J ENST00000261868 human ensembl 74_37 +1 known in_frame_del c.3_5 p.A5in_frame_del 1.000:1.000:1.000 NULL pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 tier1 38 0 0.00 32 2 5.88 ELAVL2 0 genome.wustl.edu 37 9 23762204 23762204 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 9 23762204 23762204 G A SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.29 p.T10I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 tier1 - - 312 0 0.00 155 42 21.32 ENSG00000271730 0 genome.wustl.edu 37 6 109319967 109319967 + RNA SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 109319967 109319967 G A SNP ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 tier1 - - 85 0 0.00 67 5 6.94 EPB41L3 0 genome.wustl.edu 37 18 5394764 5394764 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 18 5394764 5394764 T C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.3182 p.K1061R 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 126 0 0.00 75 12 13.79 EPB41L3 0 genome.wustl.edu 37 18 5397201 5397201 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 18 5397201 5397201 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2697 p.E899D 0.938 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 172 0 0.00 126 32 20.25 EPHA6 0 genome.wustl.edu 37 3 97356863 97356863 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 97356863 97356863 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2721 p.K907N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 69 0 0.00 52 5 8.77 EPHB6 0 genome.wustl.edu 37 7 142567599 142567599 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 142567599 142567599 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known silent c.2487 p.A829 0.989 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,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 EPHB6 HGNC ENSG00000106123 tier1 - - 66 0 0.00 33 7 17.50 ESF1 0 genome.wustl.edu 37 20 13740371 13740371 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 13740371 13740371 T G SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.1796 p.N599T 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 tier1 - - 32 0 0.00 17 6 26.09 ESR1 0 genome.wustl.edu 37 6 152419948 152419948 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 152419948 152419948 C T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known silent c.1635 p.D545 0.398 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Oestr_rcpt,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_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 tier1 - - 70 0 0.00 37 6 13.95 EYA4 0 genome.wustl.edu 37 6 133844286 133844286 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 133844286 133844286 T C SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.1709 p.I570T 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 120 0 0.00 88 5 5.38 FAM214A 0 genome.wustl.edu 37 15 52901351 52901351 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 52901351 52901351 T G SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.1760 p.Q587P 0.440 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 tier1 - - 66 0 0.00 35 7 16.67 FAM71B 0 genome.wustl.edu 37 5 156592996 156592996 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 5 156592996 156592996 C A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.184 p.D62Y 0.989 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 tier1 - - 118 0 0.00 77 14 15.38 FAM98A 0 genome.wustl.edu 37 2 33810020 33810020 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 33810020 33810020 A G SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known silent c.1380 p.G460 0.997 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 tier1 - - 159 0 0.00 106 8 6.96 FAT4 0 genome.wustl.edu 37 4 126372685 126372685 + Missense_Mutation SNP A A T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 126372685 126372685 A T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10514 p.D3505V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 163 0 0.00 88 19 17.76 FCRL1 0 genome.wustl.edu 37 1 157771372 157771372 + RNA SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 157771372 157771372 A G SNP FCRL1 ENST00000368175 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL1 HGNC ENSG00000163534 tier1 - - 75 0 0.00 63 6 8.70 FGF14 0 genome.wustl.edu 37 13 102379052 102379052 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 102379052 102379052 A G SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known silent c.532 p.L178 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 72 0 0.00 51 21 29.17 FLG2 0 genome.wustl.edu 37 1 152329419 152329419 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 152329419 152329419 A C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.843 p.G281 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 266 0 0.00 172 35 16.83 FLRT2 0 genome.wustl.edu 37 14 86087886 86087886 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 86087886 86087886 A G SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.28 p.S10G 0.997 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 111 0 0.00 70 23 24.73 FLRT2 0 genome.wustl.edu 37 14 86088396 86088396 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 86088396 86088396 G C SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.538 p.V180L 0.849 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 66 0 0.00 62 15 19.23 GRIA2 0 genome.wustl.edu 37 4 158254031 158254031 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 158254031 158254031 A C SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known silent c.943 p.R315 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA2 HGNC ENSG00000120251 tier1 - - 111 0 0.00 66 14 17.50 GRM7 0 genome.wustl.edu 37 3 6903293 6903293 + Frame_Shift_Del DEL A A - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 6903293 6903293 A - DEL GRM7 ENST00000402647 human ensembl 74_37 +1 known frame_shift_del c.218 p.N74fs 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 22 0 0.00 17 2 10.53 GSTA3 0 genome.wustl.edu 37 6 52761671 52761671 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 52761671 52761671 C T SNP GSTA3 ENST00000211122 human ensembl 74_37 -1 known missense c.602 p.G201D 1.000 superfamily_Glutathione-S-Trfase_C-like,prints_GST_alpha pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC ENSG00000174156 tier1 - - 137 0 0.00 82 16 16.33 HIC1 0 genome.wustl.edu 37 17 1960405 1960407 + In_Frame_Del DEL GGC GGC - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 1960405 1960407 GGC - DEL HIC1 ENST00000322941 human ensembl 74_37 +1 known in_frame_del c.478_480 p.G163in_frame_del 1.000:1.000:0.996 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 tier1 9 0 0.00 4 2 33.33 HMCN1 0 genome.wustl.edu 37 1 185934993 185934993 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 185934993 185934993 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2158 p.V720I 0.051 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 116 0 0.00 79 11 12.22 HNF4A 0 genome.wustl.edu 37 20 43052773 43052775 + In_Frame_Del DEL GCT GCT - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 43052773 43052775 GCT - DEL HNF4A ENST00000316099 human ensembl 74_37 +1 known in_frame_del c.1008_1010 p.L340in_frame_del 1.000:1.000:1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 tier1 33 0 0.00 29 3 9.38 HRNR 0 genome.wustl.edu 37 1 152186937 152186937 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 152186937 152186937 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.7168 p.S2390P 0.020 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 52 0 0.00 34 7 17.07 HS3ST3B1 0 genome.wustl.edu 37 17 14248463 14248463 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 14248463 14248463 G A SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known missense c.673 p.V225M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 tier1 - - 70 0 0.00 42 27 39.13 HS6ST3 0 genome.wustl.edu 37 13 97485087 97485087 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 97485087 97485087 T C SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.1051 p.F351L 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 tier1 - - 102 0 0.00 58 9 13.43 IFNGR1 0 genome.wustl.edu 37 6 137525557 137525557 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 137525557 137525557 T C SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.458 p.N153S 0.034 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 tier1 - - 103 0 0.00 73 17 18.89 IGHMBP2 0 genome.wustl.edu 37 11 68675677 68675677 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 68675677 68675677 C T SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.321 p.T107 0.894 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 tier1 - - 150 0 0.00 135 49 26.63 IL1RAPL1 0 genome.wustl.edu 37 X 29417401 29417401 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 29417401 29417401 A C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.679 p.R227 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 27 0 0.00 21 12 36.36 IL4I1 0 genome.wustl.edu 37 19 50397635 50397635 + Nonsense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 50397635 50397635 T A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known nonsense c.523 p.K175* 0.591 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 tier1 - - 112 0 0.00 92 9 8.91 IRS4 0 genome.wustl.edu 37 X 107977167 107977167 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 107977167 107977167 T C SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.2408 p.K803R 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 123 0 0.00 83 37 30.83 ITGB3 0 genome.wustl.edu 37 17 45368487 45368487 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 45368487 45368487 A C SNP ITGB3 ENST00000571680 human ensembl 74_37 +1 putative silent c.1293 p.G431 0.000 smart_Integrin_bsu_N pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 tier1 - - 76 0 0.00 52 5 8.62 KIAA1109 0 genome.wustl.edu 37 4 123130419 123130419 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 123130419 123130419 A C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.1858 p.T620P 0.020 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 70 0 0.00 26 3 10.34 KIF14 0 genome.wustl.edu 37 1 200534591 200534591 + Missense_Mutation SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 200534591 200534591 C G SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.3868 p.E1290Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 tier1 - - 39 0 0.00 30 4 11.76 KRT34 0 genome.wustl.edu 37 17 39535241 39535241 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 39535241 39535241 G A SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known missense c.1190 p.T397M 0.864 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 tier1 - - 198 0 0.00 133 22 14.19 KRT6B 0 genome.wustl.edu 37 12 52840977 52840977 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 52840977 52840977 G A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known silent c.1692 p.H564 0.192 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 tier1 - - 119 0 0.00 83 14 14.43 KSR2 0 genome.wustl.edu 37 12 117962864 117962864 + Missense_Mutation SNP A A T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 117962864 117962864 A T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.2012 p.L671H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 60 0 0.00 34 5 12.82 LIMCH1 0 genome.wustl.edu 37 4 41648507 41648507 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 41648507 41648507 G A SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.2417 p.R806Q 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 rs140689582 - 109 0 0.00 79 11 12.09 LOC101929006 0 genome.wustl.edu 37 6 29231769 29231769 + RNA SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 29231769 29231769 A C SNP LOC101929006 ENST00000441381 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors XXbac-BPG308J9.3 Clone_based_vega_gene ENSG00000232505 tier1 - - 117 0 0.00 92 12 11.54 LRP12 0 genome.wustl.edu 37 8 105502952 105502952 + Silent SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 105502952 105502952 T C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.2472 p.E824 0.977 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 118 0 0.00 66 7 9.59 LRP1B 0 genome.wustl.edu 37 2 141259339 141259339 + Nonsense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 141259339 141259339 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.8767 p.R2923* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 71 0 0.00 45 9 16.67 LRRTM4 0 genome.wustl.edu 37 2 77746793 77746793 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 77746793 77746793 A C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.205 p.L69V 0.052 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 117 0 0.00 69 11 13.75 MAD1L1 0 genome.wustl.edu 37 7 2054206 2054206 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 2054206 2054206 C A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1290 p.Q430H 1.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 tier1 - - 53 0 0.00 42 5 10.64 MAGEC1 0 genome.wustl.edu 37 X 140993285 140993285 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 140993285 140993285 A G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.95 p.Q32R 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 88 0 0.00 48 38 44.19 MAGEC3 0 genome.wustl.edu 37 X 140969448 140969448 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 140969448 140969448 A G SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.775 p.T259A 0.021 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 129 0 0.00 61 28 31.46 MAP3K9 0 genome.wustl.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 71275774 71275776 CCT - DEL MAP3K9 ENST00000555993 human ensembl 74_37 -1 known in_frame_del c.115_113 p.E38in_frame_del 1.000:1.000:0.998 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 tier1 9 0 0.00 6 3 33.33 MB21D2 0 genome.wustl.edu 37 3 192517008 192517008 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 192517008 192517008 T C SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.643 p.K215E 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 tier1 - - 98 0 0.00 85 6 6.59 MED12L 0 genome.wustl.edu 37 3 150883667 150883667 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 150883667 150883667 A C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.1392 p.E464D 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 167 0 0.00 145 9 5.84 MFNG 0 genome.wustl.edu 37 22 37876306 37876306 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 22 37876306 37876306 C T SNP MFNG ENST00000438891 human ensembl 74_37 -1 known missense c.287 p.R96Q 0.002 NULL pfam_Fringe-like - no_errors MFNG HGNC ENSG00000100060 tier1 - - 66 0 0.00 51 6 10.53 MGAT2 0 genome.wustl.edu 37 14 50089217 50089220 + Frame_Shift_Del DEL CTAA CTAA - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 50089217 50089220 CTAA - DEL MGAT2 ENST00000305386 human ensembl 74_37 +1 known frame_shift_del c.1231_1234 p.T412fs 0.982:0.985:0.001:0.000 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC ENSG00000168282 tier1 83 0 0.00 48 7 12.73 MIR1200 0 genome.wustl.edu 37 7 36958970 36958970 + RNA SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 36958970 36958970 C T SNP MIR1200 ENST00000408398 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1200 HGNC ENSG00000221325 tier1 - - 70 0 0.00 36 10 21.74 MOGAT1 0 genome.wustl.edu 37 2 223559200 223559200 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 223559200 223559200 T C SNP MOGAT1 ENST00000446656 human ensembl 74_37 +1 known missense c.598 p.F200L 0.002 pfam_DAGAT pfam_DAGAT - no_errors MOGAT1 HGNC ENSG00000124003 tier1 - - 58 0 0.00 28 6 17.65 MYT1L 0 genome.wustl.edu 37 2 1812914 1812914 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 1812914 1812914 A C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.3106 p.S1036A 0.993 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 166 0 0.00 107 11 9.32 NLRP9 0 genome.wustl.edu 37 19 56241343 56241343 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 56241343 56241343 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.1848 p.L616 0.000 NULL 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 NLRP9 HGNC ENSG00000185792 tier1 - - 108 0 0.00 77 12 13.48 NPEPPS 0 genome.wustl.edu 37 17 45668087 45668087 + Nonsense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 45668087 45668087 G A SNP NPEPPS ENST00000322157 human ensembl 74_37 +1 known nonsense c.1100 p.W367* 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 tier1 - - 35 0 0.00 22 3 12.00 NPHS1 0 genome.wustl.edu 37 19 36317473 36317473 + Missense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 36317473 36317473 G T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.3669 p.D1223E 0.130 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 70 0 0.00 44 11 20.00 NR1H4 0 genome.wustl.edu 37 12 100904824 100904824 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 100904824 100904824 G A SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known silent c.378 p.A126 0.000 prints_ThyrH_rcpt 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 tier1 - - 117 0 0.00 108 10 8.47 NUMA1 0 genome.wustl.edu 37 11 71726700 71726700 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 71726700 71726700 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.1849 p.L617 0.805 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 - - 50 0 0.00 51 13 20.31 NYNRIN 0 genome.wustl.edu 37 14 24885245 24885245 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 24885245 24885245 C T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.4290 p.T1430 1.000 superfamily_RNaseH-like_dom pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 tier1 - - 124 0 0.00 95 8 7.77 OR4D5 0 genome.wustl.edu 37 11 123811018 123811018 + Missense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 123811018 123811018 G T SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.695 p.G232V 0.965 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 278 0 0.00 282 16 5.37 OR4K5 0 genome.wustl.edu 37 14 20388990 20388990 + Silent SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 20388990 20388990 T A SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known silent c.225 p.S75 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 tier1 - - 415 0 0.00 314 45 12.50 OR4N5 0 genome.wustl.edu 37 14 20612517 20612517 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 20612517 20612517 T G SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known missense c.623 p.L208R 0.180 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 tier1 - - 95 0 0.00 56 8 12.50 OR4Q3 0 genome.wustl.edu 37 14 20216395 20216395 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 20216395 20216395 A C SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.809 p.K270T 0.580 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 tier1 - - 178 0 0.00 122 23 15.86 OR5D16 0 genome.wustl.edu 37 11 55606311 55606311 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 55606311 55606311 C T SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known silent c.84 p.P28 0.048 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 tier1 - - 128 0 0.00 127 12 8.63 OR8H3 0 genome.wustl.edu 37 11 55890034 55890034 + Silent SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 55890034 55890034 T C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.186 p.F62 0.934 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 491 0 0.00 363 77 17.50 PARP4 0 genome.wustl.edu 37 13 25066627 25066627 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 25066627 25066627 G C SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.985 p.P329A 0.996 superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 124 0 0.00 90 6 6.25 PCDH15 0 genome.wustl.edu 37 10 55566868 55566868 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 55566868 55566868 T G SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known missense c.4517 p.K1506T 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 29 0 0.00 19 5 20.83 PCDH15 0 genome.wustl.edu 37 10 55973754 55973754 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 55973754 55973754 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1040 p.L347P 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 55 0 0.00 67 10 12.99 PDE3A 0 genome.wustl.edu 37 12 20801740 20801740 + Missense_Mutation SNP A A T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 20801740 20801740 A T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.2684 p.K895M 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 125 0 0.00 77 9 10.47 PIFO 0 genome.wustl.edu 37 1 111891299 111891300 + RNA INS - - A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 111891299 111891300 - A INS PIFO ENST00000484512 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors PIFO HGNC ENSG00000173947 tier1 289 0 0.00 172 16 8.51 PIGZ 0 genome.wustl.edu 37 3 196674046 196674046 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 196674046 196674046 C T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known silent c.1722 p.E574 0.997 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 tier1 - - 89 0 0.00 87 5 5.43 PRAMEF22 0 genome.wustl.edu 37 1 13036458 13036458 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 13036458 13036458 G A SNP PRAMEF22 ENST00000376187 human ensembl 74_37 +1 known missense c.530 p.R177K 0.015 NULL NULL - no_errors PRAMEF22 HGNC ENSG00000204508 tier1 - - 78 0 0.00 54 14 20.59 RB1 0 genome.wustl.edu 37 13 48919318 48919318 + Silent SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 48919318 48919318 C G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known silent c.483 p.L161 0.995 pfam_RB_N pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 97 0 0.00 62 11 15.07 RP1L1 0 genome.wustl.edu 37 8 10466100 10466100 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 10466100 10466100 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.5508 p.E1836 0.004 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 377 0 0.00 241 26 9.74 RTN3 0 genome.wustl.edu 37 11 63487821 63487821 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 63487821 63487821 C T SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.1847 p.S616F 0.217 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 - - 109 0 0.00 129 7 5.15 RUNX1 0 genome.wustl.edu 37 21 36228727 36228727 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 21 36228727 36228727 G A SNP RUNX1 ENST00000486278 human ensembl 74_37 -1 known missense c.559 p.R187W 0.001 NULL pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 53 0 0.00 34 4 10.53 SEMA6A 0 genome.wustl.edu 37 5 115815859 115815859 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 5 115815859 115815859 G A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known silent c.1209 p.P403 0.613 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 90 0 0.00 50 8 13.79 SERPINI1 0 genome.wustl.edu 37 3 167508347 167508347 + Silent SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 167508347 167508347 C G SNP SERPINI1 ENST00000295777 human ensembl 74_37 +1 known silent c.438 p.A146 0.601 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 tier1 - - 57 0 0.00 41 8 16.33 SI 0 genome.wustl.edu 37 3 164709237 164709237 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 164709237 164709237 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.5012 p.F1671C 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 50 0 0.00 42 4 8.70 SI 0 genome.wustl.edu 37 3 164735779 164735779 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 164735779 164735779 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.3499 p.L1167 0.691 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 93 0 0.00 67 6 8.22 SLC10A6 0 genome.wustl.edu 37 4 87769921 87769921 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 87769921 87769921 G A SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known silent c.348 p.T116 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 tier1 - - 125 0 0.00 104 19 15.45 SLC17A6 0 genome.wustl.edu 37 11 22363082 22363082 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 22363082 22363082 A C SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.95 p.E32A 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 135 0 0.00 112 8 6.67 SLC23A3 0 genome.wustl.edu 37 2 220028979 220028980 + Frame_Shift_Ins INS - - G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 220028979 220028980 - G INS SLC23A3 ENST00000455516 human ensembl 74_37 -1 known frame_shift_ins c.1273_1272 p.T424fs 0.998:0.996 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 tier1 17 0 0.00 9 2 18.18 SLC39A12 0 genome.wustl.edu 37 10 18242355 18242355 + Silent SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 18242355 18242355 C G SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known silent c.150 p.L50 0.954 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 84 0 0.00 77 5 6.10 SLC39A12 0 genome.wustl.edu 37 10 18250710 18250710 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 18250710 18250710 A C SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.462 p.E154D 1.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 74 0 0.00 60 16 21.05 SNTG1 0 genome.wustl.edu 37 8 51415430 51415430 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 51415430 51415430 A C SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.456 p.E152D 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 59 0 0.00 35 4 10.26 SOX30 0 genome.wustl.edu 37 5 157065334 157065334 + Frame_Shift_Del DEL G G - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 5 157065334 157065334 G - DEL SOX30 ENST00000265007 human ensembl 74_37 -1 known frame_shift_del c.1784 p.P595fs 0.919 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 tier1 65 0 0.00 37 2 5.13 SRMS 0 genome.wustl.edu 37 20 62178476 62178476 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 62178476 62178476 G A SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.341 p.T114M 0.001 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 93 0 0.00 80 5 5.88 SSX5 0 genome.wustl.edu 37 X 48053653 48053653 + Missense_Mutation SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 48053653 48053653 C G SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known missense c.315 p.K105N 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 tier1 - - 72 0 0.00 61 17 21.79 SUPT6H 0 genome.wustl.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 27001303 27001305 GAG - DEL SUPT6H ENST00000314616 human ensembl 74_37 +1 known in_frame_del c.112_114 p.E41in_frame_del 1.000:1.000:0.998 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 48 0 0.00 35 2 5.41 SYMPK 0 genome.wustl.edu 37 19 46347310 46347310 + Silent SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 46347310 46347310 G T SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known silent c.825 p.I275 1.000 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 125 0 0.00 46 7 13.21 TNR 0 genome.wustl.edu 37 1 175336377 175336377 + Missense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 175336377 175336377 G T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2020 p.Q674K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 74 0 0.00 59 9 13.24 TRAPPC8 0 genome.wustl.edu 37 18 29437875 29437875 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 18 29437875 29437875 T C SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known missense c.2816 p.N939S 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 tier1 - - 227 0 0.00 140 33 18.97 TRMT10A 0 genome.wustl.edu 37 4 100477328 100477328 + Frame_Shift_Del DEL T T - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 100477328 100477328 T - DEL TRMT10A ENST00000273962 human ensembl 74_37 -1 known frame_shift_del c.470 p.N157fs 1.000 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 tier1 52 0 0.00 35 2 5.41 TTLL12 0 genome.wustl.edu 37 22 43570378 43570378 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 22 43570378 43570378 G A SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known silent c.1066 p.L356 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 tier1 - - 75 0 0.00 49 8 14.04 TTN 0 genome.wustl.edu 37 2 179416419 179416419 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 179416419 179416419 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83504 p.N27835S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 60 0 0.00 53 6 10.17 UBA6-AS1 0 genome.wustl.edu 37 4 68928905 68928905 + RNA SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 68928905 68928905 A C SNP UBA6-AS1 ENST00000499180 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 tier1 - - 73 0 0.00 55 12 17.91 UNC5D 0 genome.wustl.edu 37 8 35583918 35583918 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 35583918 35583918 T A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1552 p.F518I 0.996 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 128 0 0.00 69 17 19.77 VEPH1 0 genome.wustl.edu 37 3 156983365 156983365 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 156983365 156983365 G A SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.2215 p.R739C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 rs151166199 - 70 0 0.00 61 6 8.96 WDR83 0 genome.wustl.edu 37 19 12781077 12781077 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 12781077 12781077 G A SNP WDR83 ENST00000242796 human ensembl 74_37 +1 known missense c.308 p.R103H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR83 HGNC ENSG00000123154 tier1 - - 173 0 0.00 120 19 13.67 ZBTB40 0 genome.wustl.edu 37 1 22817021 22817021 + Nonsense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 22817021 22817021 C T SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known nonsense c.580 p.Q194* 0.958 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 tier1 - - 210 0 0.00 166 17 9.29 ZBTB9 0 genome.wustl.edu 37 6 33423797 33423797 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 33423797 33423797 A G SNP ZBTB9 ENST00000395064 human ensembl 74_37 +1 known missense c.920 p.K307R 0.909 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 tier1 - - 136 0 0.00 112 10 8.20 ZFYVE1 0 genome.wustl.edu 37 14 73464684 73464684 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 73464684 73464684 C T SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.823 p.D275N 1.000 superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 tier1 - - 91 0 0.00 65 14 17.72 ZIM2 0 genome.wustl.edu 37 19 57286620 57286620 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 57286620 57286620 T G SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.1020 p.Q340H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 tier1 - - 91 0 0.00 65 11 14.29 ZNF100 0 genome.wustl.edu 37 19 21926888 21926888 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 21926888 21926888 T A SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.253 p.I85F 0.073 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF100 HGNC ENSG00000197020 tier1 - - 158 0 0.00 82 17 17.17 FLG2 0 genome.wustl.edu 37 1 152329419 152329419 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 152329419 152329419 A C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.843 p.G281 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 247 0 0 157 31 16.4894 CASQ1 0 genome.wustl.edu 37 1 160160587 160160587 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 160160587 160160587 C T SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.46 p.R16W 0.968 pfam_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 45 0 0 40 3 6.97674 TNR 0 genome.wustl.edu 37 1 175336377 175336377 + Missense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 175336377 175336377 G T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2020 p.Q674K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 64 0 0 51 7 12.069 HMCN1 0 genome.wustl.edu 37 1 185934993 185934993 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 185934993 185934993 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2158 p.V720I 0.051 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 98 0 0 68 9 11.6883 RGS18 0 genome.wustl.edu 37 1 192150478 192150478 + Nonsense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 192150478 192150478 G T SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known nonsense c.340 p.E114* 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 62 0 0 36 4 10 KCNT2 0 genome.wustl.edu 37 1 196227371 196227371 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 196227371 196227371 A G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.3164 p.L1055P 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 80 0 0 56 3 5.08475 ZBTB40 0 genome.wustl.edu 37 1 22817021 22817021 + Nonsense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 22817021 22817021 C T SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known nonsense c.580 p.Q194* 0.958 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 195 0 0 152 16 9.52381 DISC1 0 genome.wustl.edu 37 1 231885787 231885787 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 231885787 231885787 A G SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known silent c.1233 p.Q411 0.350 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 96 0 0 76 10 11.6279 OR2M3 0 genome.wustl.edu 37 1 248366676 248366676 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 248366676 248366676 T G SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.307 p.F103V 0.821 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 OR2M3 HGNC ENSG00000228198 396 1 0.251889 264 50 15.9236 TTC39A 0 genome.wustl.edu 37 1 51753878 51753878 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 51753878 51753878 G C SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.1793 p.S598C 0.992 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 60 0 0 51 3 5.55556 CACHD1 0 genome.wustl.edu 37 1 65098384 65098384 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 65098384 65098384 C T SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known silent c.747 p.D249 0.840 pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 56 0 0 51 8 13.5593 CAMTA1 0 genome.wustl.edu 37 1 7151399 7151399 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 7151399 7151399 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.270 p.H90 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 46 0 0 33 6 15.3846 CLCA2 0 genome.wustl.edu 37 1 86900342 86900342 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 1 86900342 86900342 C T SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.886 p.L296F 0.916 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 103 0 0 97 8 7.61905 SLC39A12 0 genome.wustl.edu 37 10 18242355 18242355 + Silent SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 18242355 18242355 C G SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known silent c.150 p.L50 0.954 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 82 0 0 73 5 6.41026 SLC39A12 0 genome.wustl.edu 37 10 18250710 18250710 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 18250710 18250710 A C SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.462 p.E154D 1.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 65 0 0 50 14 21.875 NET1 0 genome.wustl.edu 37 10 5496479 5496479 + Missense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 5496479 5496479 G T SNP NET1 ENST00000355029 human ensembl 74_37 +1 known missense c.1020 p.E340D 0.985 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 53 0 0 44 4 8.33333 PCDH15 0 genome.wustl.edu 37 10 55566868 55566868 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 55566868 55566868 T G SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known missense c.4517 p.K1506T 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 27 0 0 18 4 18.1818 PCDH15 0 genome.wustl.edu 37 10 55973754 55973754 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 55973754 55973754 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1040 p.L347P 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 43 0 0 55 7 11.2903 BICC1 0 genome.wustl.edu 37 10 60560796 60560796 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 60560796 60560796 T G SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2005 p.S669A 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 57 0 0 26 9 25.7143 BICC1 0 genome.wustl.edu 37 10 60566912 60566912 + Silent SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 10 60566912 60566912 T A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.2370 p.T790 0.332 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 118 0 0 64 7 9.85915 CNTN5 0 genome.wustl.edu 37 11 100179143 100179143 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 100179143 100179143 G C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2673 p.E891D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 30 0 0 49 3 5.76923 SLC17A6 0 genome.wustl.edu 37 11 22363082 22363082 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 22363082 22363082 A C SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.95 p.E32A 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 119 0 0 99 7 6.60377 BDNF 0 genome.wustl.edu 37 11 27679558 27679558 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 27679558 27679558 T C SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.800 p.K267R 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 225 0 0 183 17 8.5 OR5D16 0 genome.wustl.edu 37 11 55606311 55606311 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 55606311 55606311 C T SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known silent c.84 p.P28 0.048 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 124 0 0 117 12 9.30233 OR8H3 0 genome.wustl.edu 37 11 55890034 55890034 + Silent SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 55890034 55890034 T C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.186 p.F62 0.934 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 421 0 0 305 67 18.0108 DAGLA 0 genome.wustl.edu 37 11 61487655 61487655 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 61487655 61487655 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.28 p.R10C 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 100 0 0 88 6 6.38298 TUT1 0 genome.wustl.edu 37 11 62356651 62356651 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 62356651 62356651 T C SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known missense c.239 p.H80R 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 62 0 0 66 5 7.04225 CCKBR 0 genome.wustl.edu 37 11 6291982 6291982 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 6291982 6291982 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.760 p.D254N 0.437 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 83 0 0 46 15 24.5902 RTN3 0 genome.wustl.edu 37 11 63487821 63487821 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 63487821 63487821 C T SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.1847 p.S616F 0.217 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 99 0 0 113 6 5.04202 IGHMBP2 0 genome.wustl.edu 37 11 68675677 68675677 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 68675677 68675677 C T SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.321 p.T107 0.894 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 139 0 0 127 43 25.2941 NUMA1 0 genome.wustl.edu 37 11 71726700 71726700 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 71726700 71726700 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.1849 p.L617 0.805 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 46 0 0 49 11 18.3333 CREBZF 0 genome.wustl.edu 37 11 85375742 85375742 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 11 85375742 85375742 C T SNP CREBZF ENST00000525639 human ensembl 74_37 -1 known missense c.178 p.E60K 0.788 NULL pfam_bZIP - no_errors CREBZF HGNC ENSG00000137504 89 0 0 72 10 12.1951 NR1H4 0 genome.wustl.edu 37 12 100904824 100904824 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 100904824 100904824 G A SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known silent c.378 p.A126 0.000 prints_ThyrH_rcpt 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 112 0 0 99 9 8.33333 ACACB 0 genome.wustl.edu 37 12 109692128 109692128 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 109692128 109692128 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.6155 p.R2052K 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 211 0 0 156 22 12.3596 KSR2 0 genome.wustl.edu 37 12 117962864 117962864 + Missense_Mutation SNP A A T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 117962864 117962864 A T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.2012 p.L671H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 55 0 0 32 5 13.5135 GRIN2B 0 genome.wustl.edu 37 12 13716489 13716489 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 13716489 13716489 G C SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.3683 p.T1228R 0.019 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 87 0 0 74 4 5.12821 PDE3A 0 genome.wustl.edu 37 12 20801740 20801740 + Missense_Mutation SNP A A T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 20801740 20801740 A T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.2684 p.K895M 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 113 0 0 73 8 9.87654 ANKRD33 0 genome.wustl.edu 37 12 52282975 52282975 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 52282975 52282975 A G SNP ANKRD33 ENST00000340970 human ensembl 74_37 +1 known missense c.116 p.Q39R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 113 0 0 98 8 7.54717 KRT6B 0 genome.wustl.edu 37 12 52840977 52840977 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 52840977 52840977 G A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known silent c.1692 p.H564 0.192 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 105 0 0 74 13 14.9425 GLI1 0 genome.wustl.edu 37 12 57864192 57864192 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 12 57864192 57864192 C T SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.1669 p.R557C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 131 0 0 97 17 14.9123 FGF14 0 genome.wustl.edu 37 13 102379052 102379052 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 102379052 102379052 A G SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known silent c.532 p.L178 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 70 0 0 49 21 30 PARP4 0 genome.wustl.edu 37 13 25066627 25066627 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 25066627 25066627 G C SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.985 p.P329A 0.996 superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 117 0 0 77 6 7.22892 CCNA1 0 genome.wustl.edu 37 13 37016441 37016441 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 37016441 37016441 A G SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.1346 p.K449R 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 75 0 0 38 11 22.449 RB1 0 genome.wustl.edu 37 13 48919318 48919318 + Silent SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 48919318 48919318 C G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known silent c.483 p.L161 0.995 pfam_RB_N pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 81 0 0 54 10 15.625 RCBTB2 0 genome.wustl.edu 37 13 49084829 49084829 + Nonsense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 49084829 49084829 G A SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known nonsense c.877 p.Q293* 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 82 0 0 68 4 5.55556 HS6ST3 0 genome.wustl.edu 37 13 97485087 97485087 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 13 97485087 97485087 T C SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.1051 p.F351L 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 96 0 0 57 8 12.3077 OR4Q3 0 genome.wustl.edu 37 14 20216395 20216395 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 20216395 20216395 A C SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.809 p.K270T 0.580 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 168 0 0 107 20 15.748 OR4K5 0 genome.wustl.edu 37 14 20388990 20388990 + Silent SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 20388990 20388990 T A SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known silent c.225 p.S75 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 354 0 0 273 38 12.2186 NYNRIN 0 genome.wustl.edu 37 14 24885245 24885245 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 24885245 24885245 C T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.4290 p.T1430 1.000 superfamily_RNaseH-like_dom pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 117 0 0 90 7 7.21649 AKAP6 0 genome.wustl.edu 37 14 33291387 33291387 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 33291387 33291387 A C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.4368 p.E1456D 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 35 0 0 30 7 18.9189 ZFYVE1 0 genome.wustl.edu 37 14 73464684 73464684 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 73464684 73464684 C T SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.823 p.D275N 1.000 superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 82 0 0 61 12 16.4384 FLRT2 0 genome.wustl.edu 37 14 86087886 86087886 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 86087886 86087886 A G SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.28 p.S10G 0.997 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 100 0 0 62 19 23.4568 FLRT2 0 genome.wustl.edu 37 14 86088396 86088396 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 86088396 86088396 G C SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.538 p.V180L 0.849 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 63 0 0 58 14 19.4444 ATP10A 0 genome.wustl.edu 37 15 25924926 25924926 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 25924926 25924926 A C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.4062 p.S1354 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 115 1 0.862069 86 6 6.52174 ATP10A 0 genome.wustl.edu 37 15 25963457 25963457 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 25963457 25963457 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1453 p.G485S 0.712 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 32 0 0 29 4 12.1212 DUT 0 genome.wustl.edu 37 15 48633776 48633776 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 48633776 48633776 A C SNP DUT ENST00000331200 human ensembl 74_37 +1 known missense c.696 p.E232D 1.000 pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf - no_errors DUT HGNC ENSG00000128951 36 0 0 17 3 15 FAM214A 0 genome.wustl.edu 37 15 52901351 52901351 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 52901351 52901351 T G SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.1760 p.Q587P 0.440 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 60 0 0 35 6 14.6341 BNC1 0 genome.wustl.edu 37 15 83935597 83935597 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 15 83935597 83935597 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known silent c.426 p.Y142 0.046 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 108 0 0 70 8 10.2564 NOMO1 0 genome.wustl.edu 37 16 14968903 14968903 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 16 14968903 14968903 G A SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.2065 p.D689N 1.000 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 111 0 0 83 5 5.68182 HS3ST3B1 0 genome.wustl.edu 37 17 14248463 14248463 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 14248463 14248463 G A SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known missense c.673 p.V225M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 60 0 0 37 22 37.2881 KRT34 0 genome.wustl.edu 37 17 39535241 39535241 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 39535241 39535241 G A SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known missense c.1190 p.T397M 0.864 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 178 0 0 117 17 12.6866 KRT16 0 genome.wustl.edu 37 17 39768514 39768514 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 39768514 39768514 C T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.427 p.A143T 0.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 204 0 0 147 9 5.76923 ITGB3 0 genome.wustl.edu 37 17 45368487 45368487 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 45368487 45368487 A C SNP ITGB3 ENST00000571680 human ensembl 74_37 +1 putative silent c.1293 p.G431 0.000 smart_Integrin_bsu_N pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 66 0 0 49 4 7.54717 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 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 39 0 0 18 3 14.2857 TRAPPC8 0 genome.wustl.edu 37 18 29437875 29437875 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 18 29437875 29437875 T C SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known missense c.2816 p.N939S 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 210 0 0 120 29 19.4631 EPB41L3 0 genome.wustl.edu 37 18 5394764 5394764 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 18 5394764 5394764 T C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.3182 p.K1061R 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 106 0 0 65 10 13.3333 EPB41L3 0 genome.wustl.edu 37 18 5397201 5397201 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 18 5397201 5397201 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2697 p.E899D 0.938 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 151 0 0 110 26 19.1176 COL5A3 0 genome.wustl.edu 37 19 10088308 10088308 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 10088308 10088308 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3088 p.E1030K 0.147 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 40 0 0 27 3 10 WDR83 0 genome.wustl.edu 37 19 12781077 12781077 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 12781077 12781077 G A SNP WDR83 ENST00000242796 human ensembl 74_37 +1 known missense c.308 p.R103H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR83 HGNC ENSG00000123154 150 0 0 108 16 12.9032 MAP1S 0 genome.wustl.edu 37 19 17844187 17844187 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 17844187 17844187 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2974 p.V992I 0.971 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 33 0 0 21 3 12.5 ZNF100 0 genome.wustl.edu 37 19 21926888 21926888 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 21926888 21926888 T A SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.253 p.I85F 0.073 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF100 HGNC ENSG00000197020 136 0 0 73 12 14.1176 TSHZ3 0 genome.wustl.edu 37 19 31767597 31767597 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 31767597 31767597 C A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.3102 p.E1034D 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 49 0 0 32 3 8.57143 NPHS1 0 genome.wustl.edu 37 19 36317473 36317473 + Missense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 36317473 36317473 G T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.3669 p.D1223E 0.130 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 70 0 0 43 10 18.8679 EEF2 0 genome.wustl.edu 37 19 3977945 3977945 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 3977945 3977945 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1939 p.R647C 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 62 0 0 54 11 16.9231 SYMPK 0 genome.wustl.edu 37 19 46347310 46347310 + Silent SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 46347310 46347310 G T SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known silent c.825 p.I275 1.000 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 108 0 0 41 7 14.5833 IL4I1 0 genome.wustl.edu 37 19 50397635 50397635 + Nonsense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 50397635 50397635 T A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known nonsense c.523 p.K175* 0.591 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 95 0 0 79 6 7.05882 NLRP9 0 genome.wustl.edu 37 19 56241343 56241343 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 56241343 56241343 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.1848 p.L616 0.000 NULL 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 NLRP9 HGNC ENSG00000185792 98 0 0 67 11 14.1026 ZIM2 0 genome.wustl.edu 37 19 57286620 57286620 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 19 57286620 57286620 T G SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.1020 p.Q340H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 84 0 0 62 10 13.8889 LRP1B 0 genome.wustl.edu 37 2 141259339 141259339 + Nonsense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 141259339 141259339 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.8767 p.R2923* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 65 0 0 44 8 15.3846 NBAS 0 genome.wustl.edu 37 2 15307290 15307290 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 15307290 15307290 T G SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.6998 p.H2333P 0.998 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 57 0 0 42 5 10.6383 TTN 0 genome.wustl.edu 37 2 179416419 179416419 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 179416419 179416419 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83504 p.N27835S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 58 0 0 48 5 9.43396 MYT1L 0 genome.wustl.edu 37 2 1812914 1812914 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 1812914 1812914 A C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.3106 p.S1036A 0.993 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 139 0 0 92 10 9.80392 HSPD1 0 genome.wustl.edu 37 2 198351917 198351917 + Silent SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 198351917 198351917 C G SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known silent c.1575 p.V525 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 44 0 0 23 4 14.8148 APOB 0 genome.wustl.edu 37 2 21249694 21249694 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 21249694 21249694 T A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.2210 p.H737L 1.000 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell 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 112 0 0 72 13 15.2941 MOGAT1 0 genome.wustl.edu 37 2 223559200 223559200 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 223559200 223559200 T C SNP MOGAT1 ENST00000446656 human ensembl 74_37 +1 known missense c.598 p.F200L 0.002 pfam_DAGAT pfam_DAGAT - no_errors MOGAT1 HGNC ENSG00000124003 54 0 0 26 6 18.75 FAM98A 0 genome.wustl.edu 37 2 33810020 33810020 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 33810020 33810020 A G SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known silent c.1380 p.G460 0.997 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 159 0 0 102 8 7.27273 NRXN1 0 genome.wustl.edu 37 2 51254923 51254923 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 51254923 51254923 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.489 p.R163 0.650 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 30 0 0 24 3 11.1111 LRRTM4 0 genome.wustl.edu 37 2 77746793 77746793 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 77746793 77746793 A C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.205 p.L69V 0.052 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 103 0 0 67 10 12.987 CTNNA2 0 genome.wustl.edu 37 2 80085262 80085262 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 80085262 80085262 C A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.524 p.A175E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 89 0 0 50 12 19.3548 CTNNA2 0 genome.wustl.edu 37 2 80646693 80646693 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 80646693 80646693 A G SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1359 p.Q453 0.997 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 79 0 0 50 4 7.40741 EIF2AK3 0 genome.wustl.edu 37 2 88890104 88890104 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 88890104 88890104 G C SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1022 p.S341C 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 38 0 0 28 3 9.67742 EIF2AK3 0 genome.wustl.edu 37 2 88890409 88890409 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 2 88890409 88890409 A C SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.929 p.I310R 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 144 0 0 113 7 5.83333 ESF1 0 genome.wustl.edu 37 20 13740371 13740371 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 13740371 13740371 T G SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.1796 p.N599T 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 28 0 0 16 4 20 CST5 0 genome.wustl.edu 37 20 23856831 23856831 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 23856831 23856831 T G SNP CST5 ENST00000304710 human ensembl 74_37 -1 known missense c.423 p.K141N 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST5 HGNC ENSG00000170367 89 0 0 44 26 37.1429 DEFB115 0 genome.wustl.edu 37 20 29845528 29845528 + Missense_Mutation SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 29845528 29845528 T G SNP DEFB115 ENST00000400552 human ensembl 74_37 +1 known missense c.62 p.V21G 0.174 NULL NULL - no_errors DEFB115 HGNC ENSG00000215547 93 0 0 54 7 11.4754 PCIF1 0 genome.wustl.edu 37 20 44569764 44569764 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 44569764 44569764 G A SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known silent c.591 p.P197 0.100 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 57 0 0 56 4 6.66667 PHACTR3 0 genome.wustl.edu 37 20 58348371 58348371 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 58348371 58348371 T A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.789 p.S263R 0.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 137 1 0.724638 107 11 9.32203 ARFGAP1 0 genome.wustl.edu 37 20 61918947 61918947 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 61918947 61918947 G A SNP ARFGAP1 ENST00000353546 human ensembl 74_37 +1 known missense c.967 p.G323S 0.983 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 48 0 0 33 3 8.33333 SRMS 0 genome.wustl.edu 37 20 62178476 62178476 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 20 62178476 62178476 G A SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.341 p.T114M 0.001 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 82 0 0 68 5 6.84932 BAGE2 0 genome.wustl.edu 37 21 11098863 11098863 + RNA SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 21 11098863 11098863 A G SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.043 - - - no_errors BAGE2 HGNC ENSG00000187172 40 0 0 23 3 11.5385 MFNG 0 genome.wustl.edu 37 22 37876306 37876306 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 22 37876306 37876306 C T SNP MFNG ENST00000438891 human ensembl 74_37 -1 known missense c.287 p.R96Q 0.002 NULL pfam_Fringe-like - no_errors MFNG HGNC ENSG00000100060 57 0 0 43 6 12.2449 TTLL12 0 genome.wustl.edu 37 22 43570378 43570378 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 22 43570378 43570378 G A SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known silent c.1066 p.L356 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 73 0 0 49 8 14.0351 MED12L 0 genome.wustl.edu 37 3 150883667 150883667 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 150883667 150883667 A C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.1392 p.E464D 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 142 0 0 121 8 6.20155 VEPH1 0 genome.wustl.edu 37 3 156983365 156983365 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 156983365 156983365 G A SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.2215 p.R739C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 69 0 0 55 6 9.83607 SI 0 genome.wustl.edu 37 3 164709237 164709237 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 164709237 164709237 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.5012 p.F1671C 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 48 0 0 39 3 7.14286 SI 0 genome.wustl.edu 37 3 164735779 164735779 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 164735779 164735779 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.3499 p.L1167 0.691 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 75 0 0 54 6 10 MB21D2 0 genome.wustl.edu 37 3 192517008 192517008 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 192517008 192517008 T C SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.643 p.K215E 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 90 0 0 78 6 7.14286 PIGZ 0 genome.wustl.edu 37 3 196674046 196674046 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 196674046 196674046 C T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known silent c.1722 p.E574 0.997 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 78 0 0 74 4 5.12821 SLC4A7 0 genome.wustl.edu 37 3 27472839 27472839 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 27472839 27472839 G A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1100 p.A367V 0.114 pfam_Band3_cytoplasmic_dom pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 163 1 0.609756 104 11 9.56522 EPHA6 0 genome.wustl.edu 37 3 97356863 97356863 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 3 97356863 97356863 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2721 p.K907N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 65 0 0 49 5 9.25926 KIAA1109 0 genome.wustl.edu 37 4 123130419 123130419 + Missense_Mutation SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 123130419 123130419 A C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.1858 p.T620P 0.020 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 67 0 0 24 4 14.2857 FAT4 0 genome.wustl.edu 37 4 126372685 126372685 + Missense_Mutation SNP A A T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 126372685 126372685 A T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10514 p.D3505V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 151 0 0 85 18 17.4757 SLC10A6 0 genome.wustl.edu 37 4 87769921 87769921 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 4 87769921 87769921 G A SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known silent c.348 p.T116 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 114 0 0 96 17 15.0442 CAMK4 0 genome.wustl.edu 37 5 110679802 110679802 + Splice_Site SNP T T G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 5 110679802 110679802 T G SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known splice_site c.240+2 e2+2 1.000 - - - no_errors CAMK4 HGNC ENSG00000152495 97 0 0 51 4 7.27273 SEMA6A 0 genome.wustl.edu 37 5 115815859 115815859 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 5 115815859 115815859 G A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known silent c.1209 p.P403 0.613 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 84 0 0 45 8 15.0943 FAM71B 0 genome.wustl.edu 37 5 156592996 156592996 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 5 156592996 156592996 C A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.184 p.D62Y 0.989 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 115 0 0 74 14 15.9091 SOX30 0 genome.wustl.edu 37 5 157065338 157065338 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 5 157065338 157065338 G C SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1780 p.P594A 0.981 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 59 0 0 37 3 7.5 SIM1 0 genome.wustl.edu 37 6 100911257 100911257 + Missense_Mutation SNP G G C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 100911257 100911257 G C SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.88 p.P30A 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 127 0 0 90 5 5.26316 IFNGR1 0 genome.wustl.edu 37 6 137525557 137525557 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 137525557 137525557 T C SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.458 p.N153S 0.034 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 95 0 0 68 15 18.0723 ESR1 0 genome.wustl.edu 37 6 152419948 152419948 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 152419948 152419948 C T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known silent c.1635 p.D545 0.398 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Oestr_rcpt,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_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 63 0 0 32 6 15.7895 PARK2 0 genome.wustl.edu 37 6 162683735 162683735 + Silent SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 162683735 162683735 T C SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.234 p.Q78 0.000 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 98 0 0 74 4 5.12821 ATXN1 0 genome.wustl.edu 37 6 16326661 16326661 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 16326661 16326661 G A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.1881 p.A627 0.574 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 112 0 0 52 10 16.129 LOC101929006 0 genome.wustl.edu 37 6 29231769 29231769 + RNA SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 29231769 29231769 A C SNP LOC101929006 ENST00000441381 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors XXbac-BPG308J9.3 Clone_based_vega_gene ENSG00000232505 106 0 0 86 10 10.4167 MOG 0 genome.wustl.edu 37 6 29627404 29627404 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 29627404 29627404 T A SNP MOG ENST00000376898 human ensembl 74_37 +1 known missense c.397 p.S133T 0.907 pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MOG HGNC ENSG00000204655 43 0 0 38 3 7.31707 TRIM40 0 genome.wustl.edu 37 6 30114834 30114834 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 30114834 30114834 G A SNP TRIM40 ENST00000376724 human ensembl 74_37 +1 known missense c.514 p.G172S 0.007 NULL pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC ENSG00000204614 37 0 0 29 5 14.7059 ZBTB9 0 genome.wustl.edu 37 6 33423797 33423797 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 33423797 33423797 A G SNP ZBTB9 ENST00000395064 human ensembl 74_37 +1 known missense c.920 p.K307R 0.909 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 122 0 0 95 7 6.86275 GSTA3 0 genome.wustl.edu 37 6 52761671 52761671 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 52761671 52761671 C T SNP GSTA3 ENST00000211122 human ensembl 74_37 -1 known missense c.602 p.G201D 1.000 superfamily_Glutathione-S-Trfase_C-like,prints_GST_alpha pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC ENSG00000174156 126 0 0 73 14 16.092 EPHB6 0 genome.wustl.edu 37 7 142567599 142567599 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 142567599 142567599 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known silent c.2487 p.A829 0.989 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,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 EPHB6 HGNC ENSG00000106123 56 0 0 27 7 20.5882 MAD1L1 0 genome.wustl.edu 37 7 2054206 2054206 + Missense_Mutation SNP C C A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 2054206 2054206 C A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1290 p.Q430H 1.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 45 0 0 41 4 8.88889 DNAH11 0 genome.wustl.edu 37 7 21599226 21599226 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 21599226 21599226 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.698 p.P233L 0.000 NULL 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 29 0 0 22 3 12 DNAH11 0 genome.wustl.edu 37 7 21784185 21784185 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 21784185 21784185 A C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.8305 p.R2769 0.972 superfamily_P-loop_NTPase 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 97 0 0 48 9 15.7895 ACTB 0 genome.wustl.edu 37 7 5568045 5568045 + Silent SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 7 5568045 5568045 G A SNP ACTB ENST00000331789 human ensembl 74_37 -1 known silent c.669 p.F223 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 116 1 0.854701 86 11 11.3402 RP1L1 0 genome.wustl.edu 37 8 10466100 10466100 + Silent SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 10466100 10466100 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.5508 p.E1836 0.004 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 357 0 0 218 24 9.91736 LRP12 0 genome.wustl.edu 37 8 105502952 105502952 + Silent SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 105502952 105502952 T C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.2472 p.E824 0.977 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 103 0 0 59 6 9.23077 CSMD3 0 genome.wustl.edu 37 8 113871376 113871376 + Nonsense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 113871376 113871376 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.1753 p.K585* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 79 0 0 65 5 7.14286 FAM86B1 0 genome.wustl.edu 37 8 12042867 12042867 + Missense_Mutation SNP G G T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 12042867 12042867 G T SNP FAM86B1 ENST00000321602 human ensembl 74_37 -1 known missense c.226 p.P76T 0.000 NULL NULL - no_errors FAM86B1 HGNC ENSG00000186523 207 1 0.480769 156 9 5.45455 UNC5D 0 genome.wustl.edu 37 8 35583918 35583918 + Missense_Mutation SNP T T A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 35583918 35583918 T A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1552 p.F518I 0.996 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 120 0 0 61 16 20.7792 ANK1 0 genome.wustl.edu 37 8 41526051 41526051 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 8 41526051 41526051 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.5128 p.V1710I 0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 66 0 0 42 17 28.8136 ELAVL2 0 genome.wustl.edu 37 9 23762204 23762204 + Missense_Mutation SNP G G A TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 9 23762204 23762204 G A SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.29 p.T10I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 267 0 0 136 34 20 IRS4 0 genome.wustl.edu 37 X 107977167 107977167 + Missense_Mutation SNP T T C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 107977167 107977167 T C SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.2408 p.K803R 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 121 0 0 78 36 31.5789 MAGEC3 0 genome.wustl.edu 37 X 140969448 140969448 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 140969448 140969448 A G SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.775 p.T259A 0.021 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 119 0 0 54 25 31.6456 MAGEC1 0 genome.wustl.edu 37 X 140993285 140993285 + Missense_Mutation SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 140993285 140993285 A G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.95 p.Q32R 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 85 0 0 44 35 44.3038 IL1RAPL1 0 genome.wustl.edu 37 X 29417401 29417401 + Silent SNP A A C TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 29417401 29417401 A C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.679 p.R227 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 24 0 0 18 11 37.931 DMD 0 genome.wustl.edu 37 X 32472905 32472905 + Silent SNP A A G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 32472905 32472905 A G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.3477 p.T1159 0.906 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 65 0 0 51 7 12.069 SSX5 0 genome.wustl.edu 37 X 48053653 48053653 + Missense_Mutation SNP C C G TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 48053653 48053653 C G SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known missense c.315 p.K105N 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 67 0 0 55 16 22.5352 ARHGEF9 0 genome.wustl.edu 37 X 62944558 62944558 + Missense_Mutation SNP C C T TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 X 62944558 62944558 C T SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known missense c.43 p.A15T 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 45 0 0 31 10 24.3902 MGAT2 0 genome.wustl.edu 37 14 50089217 50089220 + Frame_Shift_Del DEL CTAA CTAA - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 50089217 50089220 CTAA - DEL MGAT2 ENST00000305386 human ensembl 74_37 +1 known frame_shift_del c.1231_1234 p.T412fs 0.982:0.985:0.001:0.000 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC ENSG00000168282 83 0 0 47 8 14.5455 MAP3K9 0 genome.wustl.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 14 71275774 71275776 CCT - DEL MAP3K9 ENST00000555993 human ensembl 74_37 -1 known in_frame_del c.115_113 p.E38in_frame_del 1.000:1.000:0.998 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 9 0 0 6 2 25 HIC1 0 genome.wustl.edu 37 17 1960405 1960407 + In_Frame_Del DEL GGC GGC - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 17 1960405 1960407 GGC - DEL HIC1 ENST00000322941 human ensembl 74_37 +1 known in_frame_del c.478_480 p.G163in_frame_del 1.000:1.000:0.996 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 8 0 0 4 2 33.3333 TDRD6 0 genome.wustl.edu 37 6 46656493 46656498 + In_Frame_Del DEL GAGCGC GAGCGC - TCGA-IN-A6RJ-01A-21D-A33T-08 TCGA-IN-A6RJ-10A-21D-A33W-08 GAGCGC GAGCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f15817b4-f5a7-4d7b-9e49-cb437ccefdff 364c6679-2a40-48b5-a7ba-a07284771969 6 46656493 46656498 GAGCGC - DEL TDRD6 ENST00000316081 human ensembl 74_37 +1 known in_frame_del c.628_633 p.ER210in_frame_del 0.890:0.996:0.996:0.998:0.998:0.983 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 140 0 0 113 11 8.87097