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 ACAN 0 genome.wustl.edu 37 15 89400488 89400488 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 89400488 89400488 T G SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.4672 p.S1558A 0.043 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 85 0 0.00 51 3 5.56 ACRBP 0 genome.wustl.edu 37 12 6748125 6748125 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 6748125 6748125 G T SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known silent c.1504 p.R502 0.002 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 tier1 - - 65 0 0.00 53 4 7.02 ACSM5 0 genome.wustl.edu 37 16 20448662 20448662 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 20448662 20448662 C A SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known silent c.1509 p.V503 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 92 0 0.00 76 4 5.00 ADORA1 0 genome.wustl.edu 37 1 203134225 203134225 + RNA DEL T T - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 203134225 203134225 T - DEL ADORA1 ENST00000464019 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADORA1 HGNC ENSG00000163485 tier1 86 0 0.00 44 10 18.52 ADORA1 0 genome.wustl.edu 37 1 203134226 203134226 + RNA SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 203134226 203134226 G C SNP ADORA1 ENST00000464019 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADORA1 HGNC ENSG00000163485 tier1 - - 84 0 0.00 44 10 18.52 AGMO 0 genome.wustl.edu 37 7 15430475 15430475 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 15430475 15430475 A C SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.732 p.D244E 0.998 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 tier1 - - 162 0 0.00 163 34 17.26 AIDA 0 genome.wustl.edu 37 1 222843563 222843563 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 222843563 222843563 A G SNP AIDA ENST00000541237 human ensembl 74_37 -1 known missense c.664 p.Y222H 1.000 pfam_AIDA_N pfam_AIDA_N,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 tier1 - - 111 0 0.00 50 33 39.29 AKAP9 0 genome.wustl.edu 37 7 91687207 91687208 + RNA INS - - T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 91687207 91687208 - T INS AKAP9 ENST00000491695 human ensembl 74_37 +1 known rna NULL NULL 0.052:0.000 - - - no_errors AKAP9 HGNC ENSG00000127914 tier1 22 0 0.00 12 3 20.00 ALX1 0 genome.wustl.edu 37 12 85674059 85674059 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 85674059 85674059 A G SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.20 p.K7R 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 tier1 - - 101 0 0.00 64 18 21.95 ALX1 0 genome.wustl.edu 37 12 85677570 85677570 + Missense_Mutation SNP A A T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 85677570 85677570 A T SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.447 p.K149N 0.992 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 tier1 - - 98 0 0.00 58 26 30.95 ANGEL2 0 genome.wustl.edu 37 1 213186441 213186441 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 213186441 213186441 G T SNP ANGEL2 ENST00000366962 human ensembl 74_37 -1 known missense c.379 p.H127N 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 tier1 - - 79 0 0.00 54 4 6.90 ANGPT1 0 genome.wustl.edu 37 8 108348423 108348423 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 108348423 108348423 A C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.530 p.L177R 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 103 0 0.00 74 33 30.84 ANKRD11 0 genome.wustl.edu 37 16 89357110 89357110 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 89357110 89357110 G T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.524 p.A175D 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 ANKRD11 HGNC ENSG00000167522 tier1 - - 56 0 0.00 41 6 12.77 ANKRD13D 0 genome.wustl.edu 37 11 67067565 67067565 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 67067565 67067565 C A SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known silent c.1044 p.R348 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 tier1 - - 64 0 0.00 57 5 8.06 ANKRD20A11P 0 genome.wustl.edu 37 21 15311645 15311645 + RNA SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 21 15311645 15311645 T C SNP ANKRD20A11P ENST00000428576 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 - - 216 0 0.00 115 71 38.17 ANKRD20A5P 0 genome.wustl.edu 37 18 14179564 14179564 + RNA SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 14179564 14179564 C T SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 141 0 0.00 50 23 31.51 ANKRD30B 0 genome.wustl.edu 37 18 14757822 14757822 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 14757822 14757822 T G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.626 p.L209R 0.105 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_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 ANKRD30B HGNC ENSG00000180777 tier1 - - 101 0 0.00 42 19 31.15 ANKRD32 0 genome.wustl.edu 37 5 93979038 93979038 + Silent SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 93979038 93979038 T G SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known silent c.492 p.T164 0.999 smart_BRCT_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 tier1 - - 159 0 0.00 129 23 15.13 ANKRD32 0 genome.wustl.edu 37 5 94024234 94024234 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 94024234 94024234 G A SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known silent c.2145 p.L715 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 tier1 - - 64 0 0.00 55 10 15.38 ARCN1 0 genome.wustl.edu 37 11 118454686 118454686 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 118454686 118454686 A G SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.610 p.I204V 1.000 NULL pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 tier1 - - 45 0 0.00 52 17 24.64 ARHGAP20 0 genome.wustl.edu 37 11 110450894 110450894 + Silent SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 110450894 110450894 T G SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known silent c.2776 p.R926 0.001 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 tier1 - - 159 0 0.00 181 25 12.08 ARHGAP35 0 genome.wustl.edu 37 19 47422455 47422455 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 47422455 47422455 G T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.523 p.D175Y 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 73 0 0.00 65 4 5.80 ARHGEF6 0 genome.wustl.edu 37 X 135761794 135761794 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 135761794 135761794 C A SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.1730 p.R577L 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 tier1 - - 123 0 0.00 74 4 5.13 ARID1A 0 genome.wustl.edu 37 1 27089531 27089532 + Frame_Shift_Ins INS - - G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 27089531 27089532 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.2487_2488 p.G830fs 0.982:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 36 0 0.00 20 17 45.95 ATP8A1 0 genome.wustl.edu 37 4 42583708 42583708 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 42583708 42583708 G T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.764 p.A255D 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A1 HGNC ENSG00000124406 tier1 - - 85 0 0.00 53 5 8.62 BACH1 0 genome.wustl.edu 37 21 30715103 30715103 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 21 30715103 30715103 G T SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known silent c.2160 p.G720 0.089 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 tier1 - - 29 0 0.00 11 5 31.25 BCL2L14 0 genome.wustl.edu 37 12 12247487 12247487 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 12247487 12247487 C G SNP BCL2L14 ENST00000266434 human ensembl 74_37 +1 known missense c.721 p.Q241E 0.000 NULL NULL - no_errors BCL2L14 HGNC ENSG00000121380 tier1 - - 40 0 0.00 19 15 44.12 BCMO1 0 genome.wustl.edu 37 16 81303800 81303800 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 81303800 81303800 C A SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.880 p.P294T 0.470 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 82 0 0.00 49 4 7.55 BICD1 0 genome.wustl.edu 37 12 32487601 32487601 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 32487601 32487601 G T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2252 p.R751I 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 tier1 - - 64 0 0.00 57 4 6.56 BIRC6 0 genome.wustl.edu 37 2 32640225 32640225 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 32640225 32640225 G T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.1866 p.L622 0.187 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 67 0 0.00 73 5 6.41 BRI3BP 0 genome.wustl.edu 37 12 125509682 125509682 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 125509682 125509682 C T SNP BRI3BP ENST00000341446 human ensembl 74_37 +1 known silent c.462 p.F154 0.930 NULL NULL - no_errors BRI3BP HGNC ENSG00000184992 61 0 0.00 57 3 5.00 C11orf84 0 genome.wustl.edu 37 11 63594542 63594542 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 63594542 63594542 C G SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known missense c.1077 p.D359E 0.142 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 tier1 - - 107 0 0.00 143 25 14.88 C11orf89 0 genome.wustl.edu 37 11 1911544 1911544 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 1911544 1911544 C T SNP C11orf89 ENST00000391480 human ensembl 74_37 -1 known missense c.271 p.E91K 0.000 NULL NULL - no_errors C11orf89 HGNC ENSG00000184682 tier1 - - 16 0 0.00 7 11 61.11 C15orf32 0 genome.wustl.edu 37 15 93015606 93015606 + Silent SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 93015606 93015606 A G SNP C15orf32 ENST00000333334 human ensembl 74_37 +1 known silent c.228 p.Q76 0.921 NULL NULL - no_errors C15orf32 HGNC ENSG00000183643 tier1 - - 97 0 0.00 53 18 25.35 C16orf62 0 genome.wustl.edu 37 16 19640046 19640046 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 19640046 19640046 A G SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.1738 p.K580E 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 - - 86 0 0.00 64 21 24.42 C16orf78 0 genome.wustl.edu 37 16 49407922 49407922 + Silent SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 49407922 49407922 A G SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known silent c.72 p.E24 0.994 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 tier1 - - 134 0 0.00 85 32 27.35 C17orf85 0 genome.wustl.edu 37 17 3716411 3716411 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 3716411 3716411 C T SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known missense c.1790 p.R597Q 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 tier1 - - 62 0 0.00 22 22 50.00 C19orf66 0 genome.wustl.edu 37 19 10197926 10197926 + Splice_Site DEL G G - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 10197926 10197926 G - DEL C19orf66 ENST00000253110 human ensembl 74_37 +1 known splice_site_del c.146-1 e3-1 0.836 - - - no_errors C19orf66 HGNC ENSG00000130813 tier1 90 0 0.00 74 18 19.57 C4orf50 0 genome.wustl.edu 37 4 5990804 5990804 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 5990804 5990804 T G SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.695 p.K232T 0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 62 0 0.00 32 35 52.24 C6 0 genome.wustl.edu 37 5 41176582 41176582 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 41176582 41176582 T G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.1163 p.N388T 0.995 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 108 0 0.00 85 12 12.37 C6 0 genome.wustl.edu 37 5 41160404 41160404 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 41160404 41160404 C A SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.1524 p.R508S 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 70 0 0.00 57 3 5.00 C6orf118 0 genome.wustl.edu 37 6 165715286 165715286 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 165715286 165715286 T C SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known silent c.525 p.E175 0.069 superfamily_Ribonuclease/ribotoxin superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 53 0 0.00 12 21 63.64 CABIN1 0 genome.wustl.edu 37 22 24466851 24466851 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 22 24466851 24466851 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.2333 p.A778V 0.844 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 68 0 0.00 30 9 23.08 CACNA1C 0 genome.wustl.edu 37 12 2659137 2659137 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 2659137 2659137 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.1419 p.S473 0.359 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 33 0 0.00 43 11 20.37 CACNA1E 0 genome.wustl.edu 37 1 181740473 181740473 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 181740473 181740473 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.4926 p.R1642 0.997 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 70 0 0.00 80 5 5.88 CACNA1G 0 genome.wustl.edu 37 17 48649985 48649985 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 48649985 48649985 C G SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.817 p.Q273E 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 51 0 0.00 49 4 7.55 CACNA1G 0 genome.wustl.edu 37 17 48678463 48678463 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 48678463 48678463 G T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known silent c.3843 p.V1281 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 66 0 0.00 65 4 5.80 CAD 0 genome.wustl.edu 37 2 27462287 27462287 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 27462287 27462287 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.5342 p.G1781D 1.000 superfamily_Metal-dep_hydrolase_composite pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 19 0 0.00 24 3 11.11 CASD1 0 genome.wustl.edu 37 7 94162522 94162522 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 94162522 94162522 C A SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known silent c.465 p.S155 0.994 superfamily_Cyclin-like pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 70 0 0.00 58 4 6.45 CASP4 0 genome.wustl.edu 37 11 104839336 104839336 + RNA SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 104839336 104839336 C A SNP CASP4 ENST00000531333 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors CASP4 HGNC ENSG00000196954 tier1 - - 47 0 0.00 50 4 7.27 CCDC11 0 genome.wustl.edu 37 18 47788534 47788534 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 47788534 47788534 C T SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known missense c.125 p.R42H 0.000 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 tier1 - - 62 0 0.00 27 9 25.00 CCDC129 0 genome.wustl.edu 37 7 31592728 31592728 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 31592728 31592728 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.168 p.A56 0.002 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 tier1 - - 82 0 0.00 110 17 13.39 CCDC141 0 genome.wustl.edu 37 2 179839848 179839848 + Silent SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 179839848 179839848 A G SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known silent c.462 p.T154 0.967 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 66 0 0.00 57 4 6.56 CCDC169 0 genome.wustl.edu 37 13 36801320 36801320 + RNA SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 13 36801320 36801320 T C SNP CCDC169 ENST00000479850 human ensembl 74_37 -1 known rna NULL NULL 0.071 - - - no_errors CCDC169 HGNC ENSG00000242715 tier1 - - 71 0 0.00 58 7 10.77 CCDC88C 0 genome.wustl.edu 37 14 91780030 91780030 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 91780030 91780030 G T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.2130 p.R710 0.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 - - 21 0 0.00 13 3 18.75 CD300LF 0 genome.wustl.edu 37 17 72700795 72700795 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 72700795 72700795 G A SNP CD300LF ENST00000326165 human ensembl 74_37 -1 known silent c.204 p.T68 0.814 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LF HGNC ENSG00000186074 tier1 rs144991054 - 101 0 0.00 54 42 43.75 CD97 0 genome.wustl.edu 37 19 14515276 14515276 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 14515276 14515276 G T SNP CD97 ENST00000242786 human ensembl 74_37 +1 known nonsense c.1531 p.E511* 0.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 41 0 0.00 33 2 5.71 CDH12 0 genome.wustl.edu 37 5 21783579 21783579 + Silent SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 21783579 21783579 A G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.1281 p.D427 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 76 0 0.00 50 17 25.37 CDKL5 0 genome.wustl.edu 37 X 18668594 18668594 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 18668594 18668594 T C SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known silent c.2862 p.L954 0.003 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL5 HGNC ENSG00000008086 tier1 - - 144 0 0.00 39 43 52.44 CHFR 0 genome.wustl.edu 37 12 133417504 133417504 + RNA SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 133417504 133417504 C A SNP CHFR ENST00000541837 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CHFR HGNC ENSG00000072609 tier1 - - 59 0 0.00 57 19 25.00 CHRM3 0 genome.wustl.edu 37 1 240071039 240071039 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 240071039 240071039 C G SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.288 p.N96K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 119 0 0.00 60 16 21.05 CIZ1 0 genome.wustl.edu 37 9 130941243 130941243 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 130941243 130941243 G T SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.1243 p.P415T 0.976 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 49 0 0.00 58 4 6.45 CLCN1 0 genome.wustl.edu 37 7 143028688 143028688 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 143028688 143028688 G T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known missense c.1109 p.R370L 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 tier1 - - 69 0 0.00 64 4 5.88 CLEC1B 0 genome.wustl.edu 37 12 10149567 10149567 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 10149567 10149567 A G SNP CLEC1B ENST00000298527 human ensembl 74_37 -1 known missense c.316 p.W106R 0.998 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1B HGNC ENSG00000165682 tier1 - - 101 0 0.00 71 38 34.86 CNTN3 0 genome.wustl.edu 37 3 74414720 74414720 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 74414720 74414720 T C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1080 p.L360 0.004 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 CNTN3 HGNC ENSG00000113805 tier1 - - 90 0 0.00 42 11 20.75 CNTN4 0 genome.wustl.edu 37 3 2777926 2777926 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 2777926 2777926 T G SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.83 p.F28C 0.995 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 tier1 - - 131 0 0.00 75 19 20.21 COL1A2 0 genome.wustl.edu 37 7 94049564 94049564 + Missense_Mutation SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 94049564 94049564 G C SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2099 p.G700A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 128 0 0.00 84 11 11.58 COL6A3 0 genome.wustl.edu 37 2 238285729 238285729 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 238285729 238285729 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2756 p.A919V 0.960 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 rs115327470 - 57 0 0.00 19 6 24.00 COQ4 0 genome.wustl.edu 37 9 131094519 131094519 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 131094519 131094519 G A SNP COQ4 ENST00000300452 human ensembl 74_37 +1 known missense c.490 p.D164N 1.000 pfam_Coq4 pfam_Coq4 - no_errors COQ4 HGNC ENSG00000167113 tier1 rs200009624 - 63 0 0.00 58 14 19.44 CRB1 0 genome.wustl.edu 37 1 197390573 197390573 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 197390573 197390573 A C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1615 p.S539R 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 65 0 0.00 53 14 20.90 CRMP1 0 genome.wustl.edu 37 4 5841268 5841268 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 5841268 5841268 A C SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1291 p.L431V 0.963 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 193 0 0.00 69 75 52.08 CRYM-AS1 0 genome.wustl.edu 37 16 21328256 21328256 + RNA SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 21328256 21328256 G T SNP CRYM-AS1 ENST00000338573 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors CRYM-AS1 HGNC ENSG00000189149 53 0 0.00 36 2 5.26 CSMD1 0 genome.wustl.edu 37 8 3565977 3565977 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 3565977 3565977 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.968 p.K323T 1.000 NULL 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 CSMD1 HGNC ENSG00000183117 tier1 - - 46 0 0.00 51 6 10.53 CSTF2T 0 genome.wustl.edu 37 10 53458771 53458771 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 53458771 53458771 C A SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known missense c.539 p.R180I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 tier1 - - 38 0 0.00 26 3 10.00 CTNNA3 0 genome.wustl.edu 37 10 69366709 69366709 + Silent SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 69366709 69366709 A C SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.198 p.T66 0.162 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 - - 93 0 0.00 79 14 15.05 CUBN 0 genome.wustl.edu 37 10 16967377 16967377 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 16967377 16967377 C A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6509 p.G2170V 0.911 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 115 0 0.00 88 5 5.38 CXCL3 0 genome.wustl.edu 37 4 74902990 74902990 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 74902990 74902990 T C SNP CXCL3 ENST00000296026 human ensembl 74_37 -1 known missense c.313 p.S105G 0.056 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL3 HGNC ENSG00000163734 59 0 0.00 52 3 5.45 CXorf67 0 genome.wustl.edu 37 X 51151007 51151007 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 51151007 51151007 C A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.1139 p.A380D 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 tier1 - - 79 0 0.00 31 23 42.59 CYFIP1 0 genome.wustl.edu 37 15 22946996 22946996 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 22946996 22946996 C T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.1269 p.Y423 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 86 0 0.00 38 19 33.33 CYP7B1 0 genome.wustl.edu 37 8 65509363 65509363 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 65509363 65509363 A C SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.1357 p.F453V 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 tier1 - - 152 0 0.00 104 58 35.80 DAPK1 0 genome.wustl.edu 37 9 90220079 90220079 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 90220079 90220079 G T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.273 p.L91 0.859 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 61 0 0.00 35 2 5.41 DCBLD2 0 genome.wustl.edu 37 3 98527011 98527011 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 98527011 98527011 C A SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known silent c.1584 p.A528 0.002 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 85 0 0.00 32 3 8.57 DCLK3 0 genome.wustl.edu 37 3 36779076 36779076 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 36779076 36779076 C A SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1075 p.G359C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 tier1 - - 63 0 0.00 30 9 23.08 DCST2 0 genome.wustl.edu 37 1 155005215 155005215 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 155005215 155005215 G T SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known silent c.469 p.R157 0.190 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 tier1 - - 67 0 0.00 73 4 5.19 DDX11 0 genome.wustl.edu 37 12 31250907 31250907 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 31250907 31250907 C A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known silent c.1851 p.V617 1.000 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 tier1 - - 262 0 0.00 198 11 5.26 DDX18 0 genome.wustl.edu 37 2 118572357 118572357 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 118572357 118572357 T C SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.4 p.S2P 0.999 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 tier1 - - 81 0 0.00 47 10 17.54 DDX18 0 genome.wustl.edu 37 2 118578815 118578816 + Frame_Shift_Del DEL GT GT - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 118578815 118578816 GT - DEL DDX18 ENST00000263239 human ensembl 74_37 +1 known frame_shift_del c.593_594 p.G198fs 1.000:1.000 smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 tier1 72 0 0.00 53 20 27.40 DENND1A 0 genome.wustl.edu 37 9 126433582 126433582 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 126433582 126433582 G T SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known silent c.345 p.V115 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 tier1 - - 78 0 0.00 67 4 5.63 DGKI 0 genome.wustl.edu 37 7 137128842 137128842 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 137128842 137128842 T C SNP DGKI ENST00000288490 human ensembl 74_37 -1 known silent c.2766 p.P922 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 205 0 0.00 145 36 19.67 DGKK 0 genome.wustl.edu 37 X 50213279 50213279 + RNA SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 50213279 50213279 C T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 120 0 0.00 29 37 56.06 DHX33 0 genome.wustl.edu 37 17 5352186 5352186 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 5352186 5352186 G T SNP DHX33 ENST00000225296 human ensembl 74_37 -1 known missense c.1758 p.S586R 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC ENSG00000005100 tier1 - - 41 0 0.00 42 4 8.70 DLG2 0 genome.wustl.edu 37 11 83544658 83544658 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 83544658 83544658 G A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1721 p.S574L 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 48 0 0.00 25 18 41.86 DNAH11 0 genome.wustl.edu 37 7 21818598 21818598 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 21818598 21818598 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.9380 p.L3127P 0.999 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 tier1 - - 77 0 0.00 82 16 16.33 DNAH14 0 genome.wustl.edu 37 1 225576094 225576094 + Missense_Mutation SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 225576094 225576094 G C SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.12785 p.R4262T 0.665 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 67 0 0.00 55 15 21.43 DOCK1 0 genome.wustl.edu 37 10 129242502 129242502 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 129242502 129242502 C A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.5309 p.P1770Q 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 56 0 0.00 37 4 9.76 DOPEY1 0 genome.wustl.edu 37 6 83839955 83839955 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 83839955 83839955 G T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known nonsense c.2455 p.G819* 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 - - 86 0 0.00 71 5 6.58 DPYS 0 genome.wustl.edu 37 8 105405184 105405184 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 105405184 105405184 T G SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.1271 p.N424T 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 tier1 - - 65 0 0.00 62 11 15.07 DSP 0 genome.wustl.edu 37 6 7579556 7579556 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 7579556 7579556 C A SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.3133 p.R1045 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 65 0 0.00 52 5 8.77 DYRK1B 0 genome.wustl.edu 37 19 40316492 40316492 + Frame_Shift_Del DEL G G - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 40316492 40316492 G 0 DEL DYRK1B ENST00000323039 human ensembl 74_37 -1 known frame_shift_del c.1753 p.Q585fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1B HGNC ENSG00000105204 9 0 0.00 4 2 33.33 ENO4 0 genome.wustl.edu 37 10 118630765 118630765 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 118630765 118630765 C A SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.1186 p.L396I 0.977 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 72 0 0.00 38 4 9.52 ENSG00000214581 0 genome.wustl.edu 37 16 34682188 34682188 + RNA SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 34682188 34682188 T C SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 195 0 0.00 133 18 11.92 ENSG00000216020 0 genome.wustl.edu 37 3 191693742 191693743 + RNA DEL CC CC - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 191693742 191693743 CC - DEL ENSG00000216020 ENST00000401201 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC026320.1 Clone_based_ensembl_gene ENSG00000216020 tier1 10 0 0.00 3 2 40.00 ENSG00000221372 0 genome.wustl.edu 37 2 41823549 41823549 + RNA SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 41823549 41823549 T A SNP ENSG00000221372 ENST00000408445 human ensembl 74_37 +1 novel rna NULL NULL 0.176 - - - no_errors AC010739.1 Clone_based_ensembl_gene ENSG00000221372 tier1 - - 44 0 0.00 41 14 25.45 ENSG00000221610 0 genome.wustl.edu 37 8 114419790 114419790 + RNA SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 114419790 114419790 C T SNP ENSG00000221610 ENST00000408683 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC107890.1 Clone_based_ensembl_gene ENSG00000221610 tier1 - - 26 0 0.00 24 15 38.46 ENSG00000231110 0 genome.wustl.edu 37 X 139298801 139298801 + RNA SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 139298801 139298801 T G SNP ENSG00000231110 ENST00000458577 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004070.1 Clone_based_vega_gene ENSG00000231110 tier1 - - 75 0 0.00 21 33 61.11 ENSG00000232274 0 genome.wustl.edu 37 1 143210699 143210699 + RNA DEL A A - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 143210699 143210699 A - DEL ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.373 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 11 0 0.00 9 2 18.18 ENSG00000244550 0 genome.wustl.edu 37 7 62694027 62694027 + RNA SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 62694027 62694027 A C SNP ENSG00000244550 ENST00000451381 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP5-905H7.3 Clone_based_vega_gene ENSG00000244550 tier1 - - 15 0 0.00 17 18 51.43 ENSG00000252196 0 genome.wustl.edu 37 6 166355806 166355806 + RNA SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 166355806 166355806 G A SNP ENSG00000252196 ENST00000516387 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL590482.1 Clone_based_ensembl_gene ENSG00000252196 100 0 0.00 61 11 15.28 ENSG00000252196 0 genome.wustl.edu 37 6 166355807 166355807 + RNA SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 166355807 166355807 C T SNP ENSG00000252196 ENST00000516387 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL590482.1 Clone_based_ensembl_gene ENSG00000252196 103 0 0.00 59 12 16.90 ENSG00000267075 0 genome.wustl.edu 37 17 20451527 20451527 + RNA DEL T T - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 20451527 20451527 T - DEL ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 122 0 0.00 67 20 22.99 EPB41L5 0 genome.wustl.edu 37 2 120861689 120861689 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 120861689 120861689 G T SNP EPB41L5 ENST00000331393 human ensembl 74_37 +1 known missense c.1391 p.R464M 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 tier1 - - 64 0 0.00 52 4 7.14 ETS1 0 genome.wustl.edu 37 11 128356014 128356014 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 128356014 128356014 C G SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known missense c.563 p.G188A 1.000 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 tier1 - - 66 0 0.00 87 10 10.31 EVC 0 genome.wustl.edu 37 4 5758088 5758088 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 5758088 5758088 A G SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1562 p.Q521R 1.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 - - 47 0 0.00 15 23 60.53 EVL 0 genome.wustl.edu 37 14 100604201 100604201 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 100604201 100604201 C A SNP EVL ENST00000544450 human ensembl 74_37 +1 putative missense c.1168 p.P390T 0.002 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 tier1 - - 41 0 0.00 13 3 18.75 EYS 0 genome.wustl.edu 37 6 65300632 65300632 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 65300632 65300632 T G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.5128 p.T1710P 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 67 0 0.00 14 35 71.43 FAAH 0 genome.wustl.edu 37 1 46874925 46874925 + RNA SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 46874925 46874925 G T SNP FAAH ENST00000489366 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors FAAH HGNC ENSG00000117480 tier1 - - 76 0 0.00 59 4 6.35 FAM154B 0 genome.wustl.edu 37 15 82575376 82575376 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 82575376 82575376 G T SNP FAM154B ENST00000339465 human ensembl 74_37 +1 known missense c.1170 p.K390N 0.855 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 tier1 - - 93 0 0.00 59 4 6.35 FAM228B 0 genome.wustl.edu 37 2 24384375 24384375 + Splice_Site SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 24384375 24384375 G T SNP FAM228B ENST00000420135 human ensembl 74_37 +1 known splice_site c.687-1 e7-1 1.000 - - - no_errors FAM228B HGNC ENSG00000219626 tier1 - - 75 0 0.00 72 4 5.26 FAM9A 0 genome.wustl.edu 37 X 8761752 8761752 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 8761752 8761752 C A SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known missense c.877 p.V293F 0.008 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 tier1 - - 48 0 0.00 30 4 11.76 FAT3 0 genome.wustl.edu 37 11 92534123 92534123 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 92534123 92534123 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.7944 p.A2648 0.976 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 92 0 0.00 89 30 25.00 FBLN5 0 genome.wustl.edu 37 14 92347700 92347700 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 92347700 92347700 G T SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known missense c.925 p.Q309K 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 tier1 - - 44 0 0.00 40 4 9.09 FBRSL1 0 genome.wustl.edu 37 12 133067335 133067335 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 133067335 133067335 C T SNP FBRSL1 ENST00000434748 human ensembl 74_37 +1 known missense c.179 p.A60V 0.106 NULL prints_AUTS2 - no_errors FBRSL1 HGNC ENSG00000112787 11 0 0.00 8 10 55.56 FBXO6 0 genome.wustl.edu 37 1 11732055 11732055 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 11732055 11732055 C T SNP FBXO6 ENST00000376753 human ensembl 74_37 +1 known missense c.484 p.R162W 0.618 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO6 HGNC ENSG00000116663 tier1 - - 103 0 0.00 116 7 5.69 FGB 0 genome.wustl.edu 37 4 155491731 155491731 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 155491731 155491731 A C SNP FGB ENST00000302068 human ensembl 74_37 +1 known missense c.1405 p.N469H 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 tier1 - - 161 0 0.00 55 56 50.45 FGF5 0 genome.wustl.edu 37 4 81207618 81207618 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 81207618 81207618 G A SNP FGF5 ENST00000312465 human ensembl 74_37 +1 known missense c.599 p.R200Q 0.405 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 FGF5 HGNC ENSG00000138675 tier1 rs201557946 - 62 0 0.00 27 10 27.03 FLG2 0 genome.wustl.edu 37 1 152324362 152324362 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 152324362 152324362 A G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.5900 p.V1967A 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 137 0 0.00 92 17 15.32 FPGS 0 genome.wustl.edu 37 9 130571165 130571165 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 130571165 130571165 C T SNP FPGS ENST00000373247 human ensembl 74_37 +1 known missense c.1057 p.L353F 0.747 tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 tier1 - - 61 0 0.00 23 47 66.20 FSHR 0 genome.wustl.edu 37 2 49191063 49191063 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 49191063 49191063 T C SNP FSHR ENST00000406846 human ensembl 74_37 -1 known silent c.897 p.Q299 1.000 pfam_GnHR_TM,prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 43 0 0.00 29 8 21.05 FXR1 0 genome.wustl.edu 37 3 180693971 180693971 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 180693971 180693971 C T SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1757 p.A586V 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 tier1 - - 67 0 0.00 42 15 26.32 GAB4 0 genome.wustl.edu 37 22 17488927 17488927 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 22 17488927 17488927 G T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known silent c.78 p.P26 0.011 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 40 0 0.00 27 3 9.68 GGCX 0 genome.wustl.edu 37 2 85780094 85780094 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 85780094 85780094 G A SNP GGCX ENST00000233838 human ensembl 74_37 -1 known missense c.1255 p.R419C 1.000 pfam_VKG_COase pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 tier1 - - 85 0 0.00 73 13 15.12 GNAS 0 genome.wustl.edu 37 20 57430180 57430180 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 20 57430180 57430180 C T SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.1670 p.S557L 0.081 NULL NULL - no_errors GNAS HGNC ENSG00000087460 tier1 - - 86 0 0.00 82 7 7.87 GNG8 0 genome.wustl.edu 37 19 47137887 47137887 + Missense_Mutation SNP A A T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 47137887 47137887 A T SNP GNG8 ENST00000300873 human ensembl 74_37 -1 known missense c.53 p.L18Q 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG8 HGNC ENSG00000167414 tier1 - - 93 0 0.00 66 15 18.52 GPD2 0 genome.wustl.edu 37 2 157406233 157406233 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 157406233 157406233 C A SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known missense c.775 p.Q259K 0.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 tier1 - - 67 0 0.00 62 4 6.06 GPR162 0 genome.wustl.edu 37 12 6933275 6933275 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 6933275 6933275 G T SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.211 p.A71S 0.940 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 tier1 - - 38 0 0.00 41 4 8.89 GPR26 0 genome.wustl.edu 37 10 125434382 125434382 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 125434382 125434382 C T SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known silent c.717 p.A239 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 tier1 - - 48 0 0.00 21 14 40.00 GPR45 0 genome.wustl.edu 37 2 105859310 105859310 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 105859310 105859310 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.995 p.R332H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 tier1 - - 62 0 0.00 35 21 37.50 GPR83 0 genome.wustl.edu 37 11 94113933 94113933 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 94113933 94113933 G A SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known silent c.654 p.D218 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 tier1 - - 29 0 0.00 50 18 26.47 GRIA2 0 genome.wustl.edu 37 4 158234006 158234006 + Missense_Mutation SNP A A T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 158234006 158234006 A T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.645 p.K215N 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 - - 60 0 0.00 46 15 24.59 GRIA2 0 genome.wustl.edu 37 4 158257857 158257857 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 158257857 158257857 C A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1802 p.S601Y 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 62 0 0.00 29 2 6.45 GRIA4 0 genome.wustl.edu 37 11 105623793 105623793 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 105623793 105623793 G A SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.334 p.A112T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 tier1 - - 106 0 0.00 57 65 53.28 GRM5 0 genome.wustl.edu 37 11 88337964 88337964 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 88337964 88337964 T C SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1316 p.E439G 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 94 0 0.00 107 13 10.83 GRXCR1 0 genome.wustl.edu 37 4 42895288 42895288 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 42895288 42895288 T G SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.5 p.L2R 0.423 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 55 0 0.00 48 3 5.88 GTF3C1 0 genome.wustl.edu 37 16 27495595 27495595 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 27495595 27495595 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3938 p.S1313F 0.995 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 104 0 0.00 64 27 29.67 GTSF1L 0 genome.wustl.edu 37 20 42354942 42354942 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 20 42354942 42354942 C T SNP GTSF1L ENST00000373003 human ensembl 74_37 -1 known silent c.393 p.T131 0.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1L HGNC ENSG00000124196 tier1 - - 73 0 0.00 15 41 73.21 HAS1 0 genome.wustl.edu 37 19 52217193 52217193 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 52217193 52217193 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known silent c.1245 p.S415 0.970 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 - - 57 0 0.00 49 6 10.91 HBE1 0 genome.wustl.edu 37 11 5290789 5290789 + Silent SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 5290789 5290789 A C SNP HBE1 ENST00000292896 human ensembl 74_37 -1 known silent c.210 p.T70 0.052 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBE1 HGNC ENSG00000213931 tier1 - - 125 0 0.00 97 54 35.76 HCFC2 0 genome.wustl.edu 37 12 104492154 104492154 + Nonsense_Mutation SNP A A T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 104492154 104492154 A T SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known nonsense c.1774 p.K592* 0.993 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 tier1 - - 172 0 0.00 103 58 36.02 HDX 0 genome.wustl.edu 37 X 83599322 83599322 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 83599322 83599322 T C SNP HDX ENST00000297977 human ensembl 74_37 -1 known silent c.1596 p.E532 0.919 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 tier1 - - 116 0 0.00 39 44 52.38 HERC2 0 genome.wustl.edu 37 15 28451468 28451468 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 28451468 28451468 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.7130 p.P2377L 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 106 0 0.00 61 15 19.74 HHLA2 0 genome.wustl.edu 37 3 108076930 108076930 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 108076930 108076930 C A SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known missense c.925 p.L309I 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 44 0 0.00 22 2 8.33 HIC2 0 genome.wustl.edu 37 22 21799864 21799865 + Frame_Shift_Ins INS - - G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 22 21799864 21799865 0 G INS HIC2 ENST00000407464 human ensembl 74_37 +1 known frame_shift_ins c.680_681 p.C230fs 0.684:0.517 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 HIC2 HGNC ENSG00000169635 20 0 0.00 11 2 15.38 HLA-DMB 0 genome.wustl.edu 37 6 32905029 32905029 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 32905029 32905029 G T SNP HLA-DMB ENST00000418107 human ensembl 74_37 -1 known missense c.542 p.A181D 0.826 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DMB HGNC ENSG00000242574 41 0 0.00 38 2 5.00 HPCAL1 0 genome.wustl.edu 37 2 10563192 10563192 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 10563192 10563192 G T SNP HPCAL1 ENST00000307845 human ensembl 74_37 +1 known missense c.462 p.R154S 0.980 pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 tier1 - - 70 0 0.00 56 4 6.67 HPS1 0 genome.wustl.edu 37 10 100185457 100185457 + Silent SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 100185457 100185457 G C SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known silent c.1176 p.A392 0.995 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 tier1 - - 105 0 0.00 100 20 16.67 HPS4 0 genome.wustl.edu 37 22 26860498 26860500 + In_Frame_Del DEL TTC TTC - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 22 26860498 26860500 TTC - DEL HPS4 ENST00000398141 human ensembl 74_37 -1 known in_frame_del c.1137_1135 p.E379in_frame_del 0.000:0.029:0.025 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 tier1 43 0 0.00 27 6 18.18 HSP90AB1 0 genome.wustl.edu 37 6 44218921 44218921 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 44218921 44218921 G T SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1094 p.S365I 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 tier1 - - 116 0 0.00 88 7 7.29 HTR3C 0 genome.wustl.edu 37 3 183772516 183772516 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 183772516 183772516 C T SNP HTR3C ENST00000318351 human ensembl 74_37 +1 known silent c.75 p.G25 0.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 43 0 0.00 20 4 16.67 IFIT3 0 genome.wustl.edu 37 10 91098459 91098459 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 91098459 91098459 T C SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known missense c.47 p.L16P 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 tier1 - - 55 0 0.00 59 4 6.35 INTS9 0 genome.wustl.edu 37 8 28716984 28716984 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 28716984 28716984 G A SNP INTS9 ENST00000521022 human ensembl 74_37 -1 known missense c.106 p.L36F 1.000 NULL pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 tier1 - - 121 0 0.00 50 24 32.43 IP6K2 0 genome.wustl.edu 37 3 48732764 48732764 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 48732764 48732764 G T SNP IP6K2 ENST00000412795 human ensembl 74_37 -1 known silent c.135 p.L45 0.009 NULL NULL - no_errors IP6K2 HGNC ENSG00000068745 tier1 - - 28 0 0.00 17 4 19.05 ITGA9 0 genome.wustl.edu 37 3 37792003 37792003 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 37792003 37792003 T C SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.2484 p.S828 0.030 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 tier1 - - 90 0 0.00 51 12 18.75 ITGB1BP2 0 genome.wustl.edu 37 X 70524100 70524100 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 70524100 70524100 G T SNP ITGB1BP2 ENST00000373829 human ensembl 74_37 +1 known missense c.703 p.G235C 1.000 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors ITGB1BP2 HGNC ENSG00000147166 tier1 - - 93 0 0.00 44 4 8.33 ITPK1 0 genome.wustl.edu 37 14 93412701 93412701 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 93412701 93412701 G T SNP ITPK1 ENST00000267615 human ensembl 74_37 -1 known silent c.876 p.A292 0.003 pfam_Inositol_tetrakis-P_1-kinase pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 71 0 0.00 51 3 5.56 JAKMIP3 0 genome.wustl.edu 37 10 133930772 133930772 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 133930772 133930772 G T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.327 p.K109N 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 45 0 0.00 57 3 5.00 KAT6A 0 genome.wustl.edu 37 8 41790300 41790300 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 41790300 41790300 G T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.5438 p.P1813H 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 46 0 0.00 66 4 5.71 KCNIP3 0 genome.wustl.edu 37 2 96049917 96049918 + RNA INS - - AC TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 96049917 96049918 - AC INS KCNIP3 ENST00000377181 human ensembl 74_37 +1 known rna NULL NULL 0.979:0.000 - - - no_errors KCNIP3 HGNC ENSG00000115041 tier1 8 0 0.00 10 3 23.08 KIAA0753 0 genome.wustl.edu 37 17 6502559 6502559 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 6502559 6502559 C G SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.2170 p.E724Q 0.106 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 tier1 - - 77 0 0.00 49 17 25.76 KIAA1024 0 genome.wustl.edu 37 15 79749614 79749614 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 79749614 79749614 A C SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.1125 p.E375D 0.985 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 tier1 - - 136 0 0.00 54 13 19.40 KIAA1109 0 genome.wustl.edu 37 4 123207914 123207914 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 123207914 123207914 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known nonsense c.9256 p.G3086* 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 114 0 0.00 73 4 5.19 KIAA1109 0 genome.wustl.edu 37 4 123207913 123207913 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 123207913 123207913 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.9255 p.Q3085H 0.997 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 116 0 0.00 75 4 5.06 KIAA1614 0 genome.wustl.edu 37 1 180885503 180885503 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 180885503 180885503 G T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.264 p.R88S 1.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 86 0 0.00 81 5 5.81 KIF21A 0 genome.wustl.edu 37 12 39734142 39734142 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 39734142 39734142 T G SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.2135 p.E712A 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 21 0 0.00 16 8 33.33 KIF26A 0 genome.wustl.edu 37 14 104638926 104638926 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 104638926 104638926 G T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known silent c.1341 p.S447 0.886 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 60 0 0.00 50 4 7.41 KIF26A 0 genome.wustl.edu 37 14 104641967 104641967 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 104641967 104641967 C A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.2842 p.L948M 0.046 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 61 0 0.00 6 16 72.73 KIF9 0 genome.wustl.edu 37 3 47307360 47307360 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 47307360 47307360 C T SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.776 p.G259D 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 42 0 0.00 37 2 5.13 KIF9-AS1 0 genome.wustl.edu 37 3 47281314 47281314 + RNA SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 47281314 47281314 C A SNP KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 tier1 - - 91 0 0.00 72 4 5.26 KLHL1 0 genome.wustl.edu 37 13 70514283 70514283 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 13 70514283 70514283 G T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known nonsense c.903 p.C301* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 81 0 0.00 58 4 6.45 KLHL24 0 genome.wustl.edu 37 3 183396909 183396909 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 183396909 183396909 A G SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.1638 p.I546M 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 tier1 - - 39 0 0.00 18 10 35.71 KNG1 0 genome.wustl.edu 37 3 186457204 186457204 + Splice_Site SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 186457204 186457204 G T SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known splice_site c.1125+1 e9+1 0.990 - - - no_errors KNG1 HGNC ENSG00000113889 tier1 - - 87 0 0.00 55 4 6.78 KRT6B 0 genome.wustl.edu 37 12 52841342 52841342 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 52841342 52841342 G A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known silent c.1440 p.G480 0.951 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 tier1 - - 98 0 0.00 109 24 18.05 KRT8 0 genome.wustl.edu 37 12 53292543 53292543 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 53292543 53292543 G T SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known nonsense c.1122 p.Y374* 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 84 0 0.00 55 4 6.78 KSR1 0 genome.wustl.edu 37 17 25904621 25904621 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 25904621 25904621 G T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.476 p.R159L 0.985 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 39 0 0.00 34 4 10.53 L1TD1 0 genome.wustl.edu 37 1 62676526 62676526 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 62676526 62676526 G T SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known nonsense c.2080 p.E694* 0.615 pfam_Transposase_22,superfamily_STAT_TF_coiled-coil pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 35 0 0.00 39 3 7.14 LEPROTL1 0 genome.wustl.edu 37 8 29961901 29961901 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 29961901 29961901 G T SNP LEPROTL1 ENST00000523116 human ensembl 74_37 +1 known missense c.178 p.D60Y 1.000 pfam_VPS55 pfam_VPS55 - no_errors LEPROTL1 HGNC ENSG00000104660 tier1 - - 79 0 0.00 63 4 5.97 LIMA1 0 genome.wustl.edu 37 12 50598456 50598456 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 50598456 50598456 G T SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known nonsense c.743 p.S248* 0.029 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 tier1 - - 38 0 0.00 44 4 8.16 LINGO2 0 genome.wustl.edu 37 9 27949357 27949357 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 27949357 27949357 G T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1313 p.P438Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 66 0 0.00 61 4 6.15 LOC100996870 0 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs1133399 - 10 0 0.00 5 4 44.44 LOC643733 0 genome.wustl.edu 37 11 104779414 104779415 + RNA INS - - CACA TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 104779414 104779415 - CACA INS LOC643733 ENST00000530264 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-693N9.2 Clone_based_vega_gene ENSG00000235505 tier1 15 0 0.00 17 3 15.00 LOXL3 0 genome.wustl.edu 37 2 74762444 74762444 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 74762444 74762444 G T SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known missense c.1554 p.F518L 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 tier1 - - 57 0 0.00 54 4 6.90 LRIG3 0 genome.wustl.edu 37 12 59272738 59272738 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 59272738 59272738 G A SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.1951 p.R651C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 tier1 - - 57 0 0.00 53 7 11.67 LRP1B 0 genome.wustl.edu 37 2 141739817 141739817 + Silent SNP A A T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 141739817 141739817 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.2799 p.S933 1.000 pfam_LDrepeatLR_classA_rpt,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 - - 70 0 0.00 52 16 23.53 LRRC4C 0 genome.wustl.edu 37 11 40136894 40136894 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 40136894 40136894 T G SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.949 p.K317Q 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 52 0 0.00 49 6 10.91 LRRN3 0 genome.wustl.edu 37 7 110762847 110762847 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 110762847 110762847 C A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known silent c.19 p.R7 0.974 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 43 0 0.00 22 15 40.54 LRSAM1 0 genome.wustl.edu 37 9 130236144 130236144 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 130236144 130236144 C A SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known silent c.684 p.I228 0.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 tier1 - - 47 0 0.00 42 10 19.23 MAGEB18 0 genome.wustl.edu 37 X 26157600 26157600 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 26157600 26157600 A C SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.498 p.E166D 0.991 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 tier1 - - 101 0 0.00 33 16 32.00 MAGEB2 0 genome.wustl.edu 37 X 30236802 30236802 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 30236802 30236802 A C SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.105 p.E35D 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 tier1 - - 116 0 0.00 43 35 44.87 MAN2C1 0 genome.wustl.edu 37 15 75651747 75651747 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 75651747 75651747 G T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.1968 p.S656R 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 tier1 - - 74 0 0.00 46 4 8.00 MANEA 0 genome.wustl.edu 37 6 96034471 96034471 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 96034471 96034471 T C SNP MANEA ENST00000358812 human ensembl 74_37 +1 known silent c.156 p.T52 0.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 tier1 - - 115 0 0.00 87 11 11.22 MAPK1IP1L 0 genome.wustl.edu 37 14 55529590 55529590 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 55529590 55529590 C A SNP MAPK1IP1L ENST00000395468 human ensembl 74_37 +1 known silent c.273 p.S91 1.000 NULL NULL - no_errors MAPK1IP1L HGNC ENSG00000168175 tier1 - - 97 0 0.00 82 6 6.82 MBOAT1 0 genome.wustl.edu 37 6 20131397 20131397 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 20131397 20131397 G A SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known silent c.453 p.T151 0.996 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 tier1 - - 124 0 0.00 44 68 60.71 MED12 0 genome.wustl.edu 37 X 70349016 70349016 + Frame_Shift_Del DEL C C - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 70349016 70349016 C - DEL MED12 ENST00000333646 human ensembl 74_37 +1 known frame_shift_del c.3528 p.L1177fs 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 tier1 46 0 0.00 27 2 6.90 MED13L 0 genome.wustl.edu 37 12 116421996 116421996 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 116421996 116421996 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.4520 p.R1507H 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 61 0 0.00 51 12 19.05 MIR3612 0 genome.wustl.edu 37 12 128778687 128778687 + RNA SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 128778687 128778687 T G SNP MIR3612 ENST00000579753 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3612 HGNC ENSG00000265635 tier1 - - 55 0 0.00 40 9 18.37 MKNK1 0 genome.wustl.edu 37 1 47027176 47027176 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 47027176 47027176 C T SNP MKNK1 ENST00000371946 human ensembl 74_37 -1 known missense c.1102 p.V368I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK1 HGNC ENSG00000079277 tier1 - - 51 0 0.00 35 10 22.22 MLLT10 0 genome.wustl.edu 37 10 22015231 22015231 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 22015231 22015231 G T SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known missense c.1937 p.R646I 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 tier1 - - 65 0 0.00 40 4 9.09 MMP20 0 genome.wustl.edu 37 11 102479749 102479749 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 102479749 102479749 T C SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.730 p.M244V 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 tier1 - - 75 0 0.00 79 33 29.46 MOGAT1 0 genome.wustl.edu 37 2 223554148 223554148 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 223554148 223554148 G T SNP MOGAT1 ENST00000446656 human ensembl 74_37 +1 known missense c.438 p.W146C 1.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT1 HGNC ENSG00000124003 37 0 0.00 34 2 5.56 MRGPRX1 0 genome.wustl.edu 37 11 18955913 18955913 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 18955913 18955913 G A SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known missense c.419 p.A140V 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 tier1 - - 45 0 0.00 30 30 50.00 MRVI1 0 genome.wustl.edu 37 11 10650359 10650359 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 10650359 10650359 G T SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known silent c.564 p.L188 0.998 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 tier1 - - 67 0 0.00 79 34 30.09 MT-TW 0 genome.wustl.edu 37 MT 5533 5533 + RNA SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 MT 5533 5533 A G SNP MT-TW ENST00000387382 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TW HGNC ENSG00000210117 tier1 - - 351 0 0.00 62 217 77.78 MTAP 0 genome.wustl.edu 37 9 21816771 21816771 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 21816771 21816771 G T SNP MTAP ENST00000380172 human ensembl 74_37 +1 known missense c.179 p.R60M 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP - no_errors MTAP HGNC ENSG00000099810 tier1 - - 96 0 0.00 74 5 6.33 MTUS2 0 genome.wustl.edu 37 13 29600077 29600077 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 13 29600077 29600077 T G SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.1272 p.I424M 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 60 0 0.00 30 14 31.82 MUC15 0 genome.wustl.edu 37 11 26584732 26584732 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 26584732 26584732 A C SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.856 p.L286V 0.962 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 tier1 - - 147 0 0.00 91 55 37.67 MUC16 0 genome.wustl.edu 37 19 9066060 9066060 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 9066060 9066060 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.21386 p.L7129R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 108 0 0.00 83 15 15.31 MUC16 0 genome.wustl.edu 37 19 9068876 9068876 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 9068876 9068876 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18570 p.D6190E 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 151 0 0.00 108 20 15.62 MUC16 0 genome.wustl.edu 37 19 9070065 9070065 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 9070065 9070065 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17381 p.N5794T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 72 0 0.00 26 30 53.57 MUC16 0 genome.wustl.edu 37 19 9072974 9072974 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 9072974 9072974 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.14472 p.T4824 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 80 0 0.00 63 16 20.00 MUC16 0 genome.wustl.edu 37 19 9089788 9089788 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 9089788 9089788 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.2027 p.S676Y 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 41 0 0.00 31 3 8.82 MUC19 0 genome.wustl.edu 37 12 40925448 40925448 + RNA SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 40925448 40925448 A C SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 34 0 0.00 20 16 44.44 MUC19 0 genome.wustl.edu 37 12 40925451 40925451 + RNA SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 40925451 40925451 T C SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 33 0 0.00 20 17 45.95 MXRA5 0 genome.wustl.edu 37 X 3241800 3241800 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 3241800 3241800 T G SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.1926 p.Q642H 0.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 89 0 0.00 45 21 31.82 MYO1E 0 genome.wustl.edu 37 15 59506906 59506906 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 59506906 59506906 G T SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known missense c.1121 p.A374D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 tier1 - - 55 0 0.00 29 4 12.12 MYO7A 0 genome.wustl.edu 37 11 76874015 76874015 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 76874015 76874015 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known silent c.1671 p.I557 0.366 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 97 0 0.00 53 38 41.76 MYT1L 0 genome.wustl.edu 37 2 1844867 1844867 + RNA SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 1844867 1844867 C A SNP MYT1L ENST00000471668 human ensembl 74_37 -1 known rna NULL NULL 0.238 - - - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 8 0 0.00 2 4 66.67 NAA25 0 genome.wustl.edu 37 12 112528595 112528595 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 112528595 112528595 G T SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.218 p.A73D 1.000 pfscan_TPR-contain_dom pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 tier1 - - 90 0 0.00 68 4 5.56 NAP1L2 0 genome.wustl.edu 37 X 72433666 72433666 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 72433666 72433666 C G SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.663 p.E221D 0.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 75 0 0.00 25 4 13.79 NAP1L3 0 genome.wustl.edu 37 X 92926799 92926799 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 92926799 92926799 T G SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1505 p.K502T 0.003 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 tier1 - - 81 0 0.00 14 20 58.82 NCOA1 0 genome.wustl.edu 37 2 24974952 24974952 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 24974952 24974952 C A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.3808 p.Q1270K 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 tier1 - - 70 0 0.00 30 8 21.05 NFXL1 0 genome.wustl.edu 37 4 47877280 47877280 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 47877280 47877280 C A SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.2110 p.G704W 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 tier1 - - 112 0 0.00 74 4 5.13 NIPBL 0 genome.wustl.edu 37 5 36970987 36970987 + Nonsense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 36970987 36970987 C G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known nonsense c.620 p.S207* 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 94 0 0.00 71 9 11.25 NKAIN4 0 genome.wustl.edu 37 20 61880181 61880181 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 20 61880181 61880181 C A SNP NKAIN4 ENST00000370316 human ensembl 74_37 -1 known missense c.259 p.G87C 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN4 HGNC ENSG00000101198 42 0 0.00 71 4 5.33 NKX2-2-AS1 0 genome.wustl.edu 37 20 21492085 21492085 + RNA SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 20 21492085 21492085 T A SNP NKX2-2-AS1 ENST00000549659 human ensembl 74_37 +1 known rna NULL NULL 0.686 - - - no_errors NKX2-2-AS1 HGNC ENSG00000258197 tier1 - - 82 0 0.00 28 50 64.10 NLGN3 0 genome.wustl.edu 37 X 70386974 70386974 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 70386974 70386974 C T SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known silent c.1027 p.L343 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 tier1 - - 59 0 0.00 27 4 12.90 NOD2 0 genome.wustl.edu 37 16 50744810 50744810 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 50744810 50744810 C A SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.988 p.P330T 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 21 0 0.00 14 11 44.00 NOD2 0 genome.wustl.edu 37 16 50744811 50744811 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 50744811 50744811 C T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.989 p.P330L 0.999 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 22 0 0.00 14 11 44.00 NOL4 0 genome.wustl.edu 37 18 31801983 31801983 + Splice_Site SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 31801983 31801983 C G SNP NOL4 ENST00000538587 human ensembl 74_37 -1 known splice_site c.42+1 e1+1 0.995 - - - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 68 0 0.00 19 25 56.82 NOTCH2NL 0 genome.wustl.edu 37 1 145290819 145290819 + RNA SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 145290819 145290819 G A SNP NOTCH2NL ENST00000479995 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NOTCH2NL HGNC ENSG00000213240 tier1 rs4659318 - 18 0 0.00 23 8 25.81 NOTCH3 0 genome.wustl.edu 37 19 15288458 15288458 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 15288458 15288458 T G SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.4281 p.Q1427H 0.997 pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 32 0 0.00 29 5 14.71 NPM1 0 genome.wustl.edu 37 5 170834716 170834716 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 170834716 170834716 C A SNP NPM1 ENST00000296930 human ensembl 74_37 +1 known missense c.784 p.P262T 1.000 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM1 HGNC ENSG00000181163 tier1 - - 69 0 0.00 57 4 6.56 NR3C2 0 genome.wustl.edu 37 4 149356317 149356317 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 149356317 149356317 G T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.1696 p.L566M 0.961 NULL 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 tier1 - - 79 0 0.00 45 4 8.16 NSMAF 0 genome.wustl.edu 37 8 59513816 59513816 + RNA SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 59513816 59513816 A C SNP NSMAF ENST00000519858 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors NSMAF HGNC ENSG00000035681 tier1 - - 106 0 0.00 104 19 15.45 NUP210L 0 genome.wustl.edu 37 1 154076545 154076545 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 154076545 154076545 G T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.1762 p.H588N 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 52 0 0.00 54 4 6.90 OLFM1 0 genome.wustl.edu 37 9 137968997 137968998 + Frame_Shift_Del DEL CA CA - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 137968997 137968998 CA - DEL OLFM1 ENST00000371799 human ensembl 74_37 +1 putative frame_shift_del c.436_437 p.T149fs 0.009:0.030 NULL NULL - no_errors OLFM1 HGNC ENSG00000130558 tier1 29 0 0.00 23 4 14.81 OR10R2 0 genome.wustl.edu 37 1 158450337 158450337 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 158450337 158450337 G T SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.670 p.V224F 0.007 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 OR10R2 HGNC ENSG00000198965 tier1 - - 75 0 0.00 41 6 12.77 OR14A2 0 genome.wustl.edu 37 1 247887222 247887222 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 247887222 247887222 G T SNP OR14A2 ENST00000366485 human ensembl 74_37 -1 known missense c.124 p.L42I 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 OR14A2 HGNC ENSG00000241128 tier1 - - 111 0 0.00 71 19 21.11 OR2M4 0 genome.wustl.edu 37 1 248402855 248402855 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 248402855 248402855 T C SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.625 p.F209L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 tier1 - - 59 0 0.00 19 12 38.71 OR2T5 0 genome.wustl.edu 37 1 248652080 248652080 + Missense_Mutation SNP A A T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 248652080 248652080 A T SNP OR2T5 ENST00000366473 human ensembl 74_37 +1 known missense c.191 p.Y64F 1.000 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 OR2T5 HGNC ENSG00000203661 tier1 - - 59 0 0.00 54 7 11.29 OR2W1 0 genome.wustl.edu 37 6 29012868 29012868 + Nonsense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 29012868 29012868 C A SNP OR2W1 ENST00000377175 human ensembl 74_37 -1 known nonsense c.85 p.G29* 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W1 HGNC ENSG00000204704 88 0 0.00 58 4 6.45 OR4A5 0 genome.wustl.edu 37 11 51411715 51411715 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 51411715 51411715 C A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.681 p.Q227H 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 tier1 - - 66 0 0.00 50 17 25.37 OR4C11 0 genome.wustl.edu 37 11 55371675 55371675 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 55371675 55371675 A C SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.175 p.F59V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 tier1 - - 154 0 0.00 129 68 34.52 OR4C15 0 genome.wustl.edu 37 11 55322517 55322517 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 55322517 55322517 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.735 p.T245 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 54 0 0.00 55 11 16.67 OR4C16 0 genome.wustl.edu 37 11 55340227 55340227 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 55340227 55340227 T G SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.624 p.S208R 0.134 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 81 0 0.00 85 14 14.14 OR4M2 0 genome.wustl.edu 37 15 22368647 22368647 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 22368647 22368647 A C SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.72 p.Q24H 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 tier1 - - 314 0 0.00 211 15 6.64 OR4P4 0 genome.wustl.edu 37 11 55406092 55406092 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 55406092 55406092 A G SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.259 p.R87G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 tier1 - - 86 0 0.00 56 21 27.27 OR51B2 0 genome.wustl.edu 37 11 5344869 5344869 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 5344869 5344869 A G SNP OR51B2 ENST00000328813 human ensembl 74_37 -1 known missense c.659 p.L220P 0.007 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B2 HGNC ENSG00000184881 tier1 - - 68 0 0.00 57 15 20.83 OR5D16 0 genome.wustl.edu 37 11 55606285 55606285 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 55606285 55606285 T G SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.58 p.S20A 0.998 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 tier1 - - 97 0 0.00 67 49 42.24 OR5D18 0 genome.wustl.edu 37 11 55587529 55587529 + Missense_Mutation SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 55587529 55587529 T A SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.424 p.C142S 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 tier1 - - 64 0 0.00 51 34 40.00 OR6B1 0 genome.wustl.edu 37 7 143701314 143701314 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 143701314 143701314 T C SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known silent c.225 p.S75 0.017 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 tier1 - - 79 0 0.00 77 14 15.38 OTOGL 0 genome.wustl.edu 37 12 80663922 80663922 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 80663922 80663922 A C SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.2479 p.T827P 0.999 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 90 0 0.00 67 11 13.92 P2RY10 0 genome.wustl.edu 37 X 78216928 78216928 + Missense_Mutation SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 78216928 78216928 T A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.911 p.L304H 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 tier1 - - 56 0 0.00 28 8 22.22 P2RY13 0 genome.wustl.edu 37 3 151046374 151046374 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 151046374 151046374 G A SNP P2RY13 ENST00000325602 human ensembl 74_37 -1 known missense c.470 p.P157L 0.036 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 tier1 - - 26 0 0.00 13 7 35.00 P4HA2 0 genome.wustl.edu 37 5 131530679 131530679 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 131530679 131530679 C A SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.1477 p.G493W 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 tier1 - - 76 0 0.00 59 4 6.35 PAX6 0 genome.wustl.edu 37 11 31827048 31827048 + RNA SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 31827048 31827048 G T SNP PAX6 ENST00000533156 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors PAX6 HGNC ENSG00000007372 tier1 - - 65 0 0.00 63 9 12.50 PCDH11X 0 genome.wustl.edu 37 X 91134101 91134101 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 91134101 91134101 T C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.2862 p.T954 0.975 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 107 0 0.00 24 27 52.94 PCDH15 0 genome.wustl.edu 37 10 55892660 55892660 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 55892660 55892660 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1892 p.V631G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 108 0 0.00 64 32 33.33 PCDH9 0 genome.wustl.edu 37 13 66878787 66878787 + Nonstop_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 13 66878787 66878787 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known nonstop c.3714 p.*1238Y 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 85 0 0.00 49 24 32.88 PCDHA4 0 genome.wustl.edu 37 5 140188386 140188386 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 140188386 140188386 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1614 p.R538 0.457 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 135 0 0.00 99 21 17.50 PCDHB10 0 genome.wustl.edu 37 5 140573676 140573676 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 140573676 140573676 G T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.1551 p.R517S 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 tier1 - - 409 0 0.00 153 144 48.48 PCDHGB7 0 genome.wustl.edu 37 5 140798758 140798758 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 140798758 140798758 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.1332 p.D444 0.453 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 51 0 0.00 39 5 11.36 PDE5A 0 genome.wustl.edu 37 4 120528192 120528192 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 120528192 120528192 G T SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.413 p.P138H 0.718 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 tier1 - - 114 0 0.00 63 4 5.97 PDHA2 0 genome.wustl.edu 37 4 96761436 96761436 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 96761436 96761436 A C SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.135 p.E45D 0.034 NULL pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 79 0 0.00 17 15 46.88 PER3 0 genome.wustl.edu 37 1 7896001 7896001 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 7896001 7896001 G T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known nonsense c.3367 p.E1123* 0.890 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 74 0 0.00 54 4 6.90 PFKFB3 0 genome.wustl.edu 37 10 6262656 6262656 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 6262656 6262656 G A SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known missense c.701 p.R234Q 0.998 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 tier1 rs140784797 - 57 0 0.00 31 24 43.64 PGRMC1 0 genome.wustl.edu 37 X 118374351 118374351 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 118374351 118374351 G T SNP PGRMC1 ENST00000217971 human ensembl 74_37 +1 known missense c.408 p.K136N 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC1 HGNC ENSG00000101856 tier1 - - 69 0 0.00 56 5 8.20 PHLPP1 0 genome.wustl.edu 37 18 60562282 60562282 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 60562282 60562282 A G SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.2105 p.H702R 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 - - 110 0 0.00 34 13 27.66 PIFO 0 genome.wustl.edu 37 1 111889664 111889664 + Missense_Mutation SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 111889664 111889664 T A SNP PIFO ENST00000369738 human ensembl 74_37 +1 known missense c.152 p.F51Y 0.000 NULL NULL - no_errors PIFO HGNC ENSG00000173947 tier1 - - 51 0 0.00 32 4 11.11 PIWIL1 0 genome.wustl.edu 37 12 130833852 130833852 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 130833852 130833852 A G SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.803 p.D268G 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 tier1 - - 109 0 0.00 80 19 19.19 PJA1 0 genome.wustl.edu 37 X 68382727 68382727 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 68382727 68382727 C T SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known missense c.355 p.D119N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 tier1 - - 91 0 0.00 50 15 23.08 PKHD1L1 0 genome.wustl.edu 37 8 110406647 110406647 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 110406647 110406647 T G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.744 p.S248R 1.000 pfam_IPT,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 38 0 0.00 37 25 40.32 PLA2R1 0 genome.wustl.edu 37 2 160806227 160806227 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 160806227 160806227 C G SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.3601 p.E1201Q 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 tier1 - - 91 0 0.00 42 22 34.38 PLXNA2 0 genome.wustl.edu 37 1 208391187 208391187 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 208391187 208391187 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.81 p.L27 1.000 pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 38 0 0.00 15 14 48.28 POLQ 0 genome.wustl.edu 37 3 121208592 121208592 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 121208592 121208592 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.3186 p.A1062 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 62 0 0.00 57 4 6.56 PRB2 0 genome.wustl.edu 37 12 11546190 11546190 + Silent SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 11546190 11546190 A G SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.822 p.P274 0.000 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 tier1 - - 81 0 0.00 84 14 14.29 PRKCB 0 genome.wustl.edu 37 16 23847616 23847616 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 23847616 23847616 C T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.120 p.T40 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 47 0 0.00 32 6 15.79 PRKD1 0 genome.wustl.edu 37 14 30068927 30068927 + Nonsense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 30068927 30068927 C A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known nonsense c.2002 p.E668* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 - - 72 0 0.00 45 4 8.16 PRKG1 0 genome.wustl.edu 37 10 54048563 54048563 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 54048563 54048563 A C SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.1787 p.K596T 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 104 0 0.00 99 23 18.85 PRRX1 0 genome.wustl.edu 37 1 170705262 170705262 + Missense_Mutation SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 170705262 170705262 G C SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known missense c.673 p.A225P 1.000 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 tier1 - - 65 0 0.00 35 7 16.67 PTPRC 0 genome.wustl.edu 37 1 198723495 198723495 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 198723495 198723495 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.3607 p.A1203S 0.999 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 72 0 0.00 45 4 8.16 PTPRD 0 genome.wustl.edu 37 9 8486088 8486088 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 8486088 8486088 T G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2729 p.E910A 1.000 pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 144 0 0.00 109 25 18.25 PVRL3 0 genome.wustl.edu 37 3 110830860 110830860 + RNA DEL T T - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 110830860 110830860 T - DEL PVRL3 ENST00000478327 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PVRL3 HGNC ENSG00000177707 tier1 59 0 0.00 30 3 9.09 PWAR6 0 genome.wustl.edu 37 15 25277567 25277567 + RNA SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 25277567 25277567 T A SNP PWAR6 ENST00000552334 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PWAR6 HGNC ENSG00000257151 31 0 0.00 17 6 26.09 PXDN 0 genome.wustl.edu 37 2 1652145 1652145 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 1652145 1652145 T G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3407 p.N1136T 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 78 0 0.00 38 32 45.71 QTRT1 0 genome.wustl.edu 37 19 10823829 10823829 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 10823829 10823829 G T SNP QTRT1 ENST00000250237 human ensembl 74_37 +1 known silent c.1095 p.V365 0.992 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like - no_errors QTRT1 HGNC ENSG00000213339 28 0 0.00 35 4 10.26 RALGAPB 0 genome.wustl.edu 37 20 37186956 37186956 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 20 37186956 37186956 C G SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.3391 p.L1131V 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 - - 107 0 0.00 34 76 68.47 RASGRF1 0 genome.wustl.edu 37 15 79317718 79317718 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 79317718 79317718 G T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.1480 p.L494M 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 78 0 0.00 44 4 8.33 RASGRP4 0 genome.wustl.edu 37 19 38912693 38912693 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 38912693 38912693 C A SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known missense c.124 p.V42F 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 65 0 0.00 62 4 6.06 RBMXL2 0 genome.wustl.edu 37 11 7111080 7111080 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 7111080 7111080 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.729 p.Y243 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 32 0 0.00 23 13 36.11 RECQL5 0 genome.wustl.edu 37 17 73625473 73625473 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 73625473 73625473 C T SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.2030 p.R677Q 0.000 pfam_RecQ_helicase-like_5 pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 tier1 - - 14 0 0.00 7 11 61.11 REV3L 0 genome.wustl.edu 37 6 111695260 111695260 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 111695260 111695260 G T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4298 p.A1433E 0.988 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 81 0 0.00 44 3 6.38 RIC8B 0 genome.wustl.edu 37 12 107254098 107254098 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 107254098 107254098 G T SNP RIC8B ENST00000392837 human ensembl 74_37 +1 known silent c.1359 p.A453 0.997 pfam_Gua_nucleotide_exch_fac_Ric8,prints_Synembryn pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 tier1 - - 64 0 0.00 53 4 7.02 RIMBP2 0 genome.wustl.edu 37 12 130927081 130927081 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 130927081 130927081 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.765 p.S255 0.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 86 0 0.00 71 5 6.58 RIN3 0 genome.wustl.edu 37 14 93125514 93125514 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 93125514 93125514 G T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.2035 p.V679L 0.956 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 tier1 - - 51 0 0.00 26 5 16.13 RLN1 0 genome.wustl.edu 37 9 5339673 5339673 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 5339673 5339673 G T SNP RLN1 ENST00000223862 human ensembl 74_37 -1 known missense c.74 p.A25D 0.000 superfamily_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 65 0 0.00 64 4 5.88 RMDN1 0 genome.wustl.edu 37 8 87498834 87498834 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 87498834 87498834 G A SNP RMDN1 ENST00000406452 human ensembl 74_37 -1 known missense c.374 p.S125L 1.000 NULL NULL - no_errors RMDN1 HGNC ENSG00000176623 tier1 - - 73 0 0.00 84 11 11.58 RN7SL537P 0 genome.wustl.edu 37 18 6972873 6972873 + RNA SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 6972873 6972873 G T SNP RN7SL537P ENST00000584392 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RN7SL537P HGNC ENSG00000265890 tier1 - - 18 0 0.00 3 5 62.50 RNF213 0 genome.wustl.edu 37 17 78341825 78341825 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 78341825 78341825 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12037 p.D4013N 1.000 smart_Znf_RING,pfscan_Znf_RING superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 37 0 0.00 42 8 16.00 RSPH6A 0 genome.wustl.edu 37 19 46317874 46317874 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 46317874 46317874 G T SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known silent c.561 p.A187 0.000 NULL pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 - - 118 0 0.00 103 19 15.57 RTN1 0 genome.wustl.edu 37 14 60193978 60193978 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 14 60193978 60193978 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.1424 p.S475L 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 46 0 0.00 13 31 70.45 RYR3 0 genome.wustl.edu 37 15 34080575 34080575 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 34080575 34080575 T G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.9746 p.L3249R 0.999 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 74 0 0.00 41 11 20.75 SCN10A 0 genome.wustl.edu 37 3 38748813 38748813 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 38748813 38748813 T G SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4343 p.K1448T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 84 0 0.00 31 16 34.04 SCN9A 0 genome.wustl.edu 37 2 167085307 167085307 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 167085307 167085307 C A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.4103 p.R1368L 0.003 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 109 0 0.00 76 20 20.83 SCN9A 0 genome.wustl.edu 37 2 167129052 167129052 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 167129052 167129052 A C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.3211 p.L1071V 0.797 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 112 0 0.00 64 28 30.43 SCNN1A 0 genome.wustl.edu 37 12 6457893 6457893 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 6457893 6457893 C A SNP SCNN1A ENST00000358945 human ensembl 74_37 -1 known silent c.1695 p.T565 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 52 0 0.00 54 4 6.78 SCRIB 0 genome.wustl.edu 37 8 144891096 144891096 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 144891096 144891096 G T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.1798 p.Q600K 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 28 0 0.00 35 2 5.41 SEPT10 0 genome.wustl.edu 37 2 110342897 110342897 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 110342897 110342897 C A SNP SEPT10 ENST00000397712 human ensembl 74_37 -1 known silent c.219 p.G73 0.998 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT10 HGNC ENSG00000186522 tier1 - - 17 0 0.00 18 4 18.18 SETBP1 0 genome.wustl.edu 37 18 42281579 42281579 + Missense_Mutation SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 42281579 42281579 G C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.268 p.E90Q 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 55 0 0.00 24 6 20.00 SLC11A1 0 genome.wustl.edu 37 2 219255998 219255998 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 219255998 219255998 C T SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known silent c.1032 p.D344 1.000 pfam_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 tier1 - - 87 0 0.00 68 40 37.04 SLC1A2 0 genome.wustl.edu 37 11 35314032 35314032 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 35314032 35314032 C G SNP SLC1A2 ENST00000278379 human ensembl 74_37 -1 known missense c.893 p.G298A 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 tier1 - - 42 0 0.00 61 5 7.58 SLC26A7 0 genome.wustl.edu 37 8 92410322 92410322 + RNA SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 92410322 92410322 T G SNP SLC26A7 ENST00000520249 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 81 0 0.00 112 32 21.77 SLC2A12 0 genome.wustl.edu 37 6 134350159 134350159 + Silent SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 134350159 134350159 C G SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known silent c.804 p.L268 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 tier1 - - 86 0 0.00 35 24 38.71 SLC35F3 0 genome.wustl.edu 37 1 234458986 234458986 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 234458986 234458986 C T SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known silent c.1263 p.R421 1.000 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 tier1 - - 27 0 0.00 18 8 30.77 SLC39A14 0 genome.wustl.edu 37 8 22275169 22275169 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 22275169 22275169 T G SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known missense c.1153 p.F385V 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 tier1 - - 46 0 0.00 54 17 23.94 SLC39A14 0 genome.wustl.edu 37 8 22262237 22262237 + Missense_Mutation SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 22262237 22262237 T A SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known missense c.14 p.L5Q 0.087 NULL pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 17 0 0.00 21 4 15.38 SLC39A6 0 genome.wustl.edu 37 18 33706858 33706858 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 33706858 33706858 G T SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.113 p.P38Q 0.010 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 74 0 0.00 17 2 10.53 SLC44A5 0 genome.wustl.edu 37 1 75684212 75684212 + Nonsense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 75684212 75684212 G A SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known nonsense c.1492 p.R498* 0.922 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 95 0 0.00 65 16 19.75 SLC45A4 0 genome.wustl.edu 37 8 142231845 142231845 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 142231845 142231845 G T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known nonsense c.261 p.Y87* 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 58 0 0.00 68 4 5.56 SLC6A19 0 genome.wustl.edu 37 5 1212600 1212600 + Splice_Site SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 5 1212600 1212600 G T SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known splice_site c.663+1 e4+1 1.000 - - - no_errors SLC6A19 HGNC ENSG00000174358 29 0 0.00 38 2 5.00 SLC9A4 0 genome.wustl.edu 37 2 103121842 103121842 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 103121842 103121842 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1110 p.M370I 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 - - 62 0 0.00 64 4 5.88 SLITRK3 0 genome.wustl.edu 37 3 164906795 164906795 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 164906795 164906795 T G SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.1824 p.E608D 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 53 0 0.00 18 6 25.00 SMEK2 0 genome.wustl.edu 37 2 55792177 55792177 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 55792177 55792177 C T SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known missense c.1681 p.E561K 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 51 0 0.00 38 10 20.83 SNHG3 0 genome.wustl.edu 37 1 28833920 28833920 + RNA SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 28833920 28833920 T C SNP SNHG3 ENST00000364938 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SNHG3 HGNC ENSG00000242125 73 0 0.00 72 6 7.69 SNORA5C 0 genome.wustl.edu 37 7 45144531 45144531 + RNA SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 45144531 45144531 A C SNP SNORA5C ENST00000364902 human ensembl 74_37 -1 known rna NULL NULL 0.081 - - - no_errors SNORA5C HGNC ENSG00000201772 tier1 - - 76 0 0.00 62 4 6.06 SNRNP200 0 genome.wustl.edu 37 2 96952155 96952155 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 96952155 96952155 G T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.3897 p.T1299 0.130 superfamily_P-loop_NTPase pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 57 0 0.00 54 4 6.90 SNRPN 0 genome.wustl.edu 37 15 25219561 25219561 + RNA SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 25219561 25219561 A C SNP SNRPN ENST00000553597 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 151 0 0.00 77 38 33.04 SNTG2 0 genome.wustl.edu 37 2 1371218 1371218 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 1371218 1371218 T C SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1592 p.L531P 0.042 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 52 0 0.00 22 13 37.14 SNX4 0 genome.wustl.edu 37 3 125170227 125170227 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 125170227 125170227 G T SNP SNX4 ENST00000251775 human ensembl 74_37 -1 known silent c.1227 p.R409 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX4 HGNC ENSG00000114520 81 0 0.00 70 4 5.41 SORBS1 0 genome.wustl.edu 37 10 97116139 97116139 + Frame_Shift_Del DEL C C - TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 97116139 97116139 C - DEL SORBS1 ENST00000607232 human ensembl 74_37 -1 known frame_shift_del c.2153 p.G718fs 0.001 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 55 0 0.00 38 2 5.00 SORCS3 0 genome.wustl.edu 37 10 106960984 106960984 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 106960984 106960984 G T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2234 p.C745F 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 82 0 0.00 58 11 15.94 SORCS3 0 genome.wustl.edu 37 10 107016622 107016622 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 107016622 107016622 T G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.3383 p.L1128R 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 93 0 0.00 44 20 31.25 SPG20 0 genome.wustl.edu 37 13 36900758 36900758 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 13 36900758 36900758 T G SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1242 p.K414N 0.994 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 tier1 - - 72 0 0.00 70 10 12.50 SPRYD7 0 genome.wustl.edu 37 13 50502175 50502175 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 13 50502175 50502175 C G SNP SPRYD7 ENST00000361840 human ensembl 74_37 -1 known missense c.270 p.Q90H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 tier1 - - 103 0 0.00 80 23 22.33 SRC 0 genome.wustl.edu 37 20 36030930 36030930 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 20 36030930 36030930 C T SNP SRC ENST00000360723 human ensembl 74_37 +1 known silent c.1227 p.C409 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,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,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,prints_SH3_domain - no_errors SRC HGNC ENSG00000197122 35 0 0.00 39 4 9.09 SRPK2 0 genome.wustl.edu 37 7 104758331 104758331 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 104758331 104758331 C T SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.2054 p.R685Q 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 46 0 0.00 43 4 8.51 SSFA2 0 genome.wustl.edu 37 2 182786988 182786988 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 182786988 182786988 C A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.3524 p.S1175Y 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 - - 65 0 0.00 58 4 6.45 ST6GALNAC5 0 genome.wustl.edu 37 1 77334454 77334454 + RNA SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 77334454 77334454 G T SNP ST6GALNAC5 ENST00000496845 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors ST6GALNAC5 HGNC ENSG00000117069 tier1 - - 25 0 0.00 13 4 23.53 STAB1 0 genome.wustl.edu 37 3 52544253 52544253 + Splice_Site SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 52544253 52544253 T C SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known splice_site c.2628+2 e24+2 1.000 - - - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 74 0 0.00 35 21 37.50 STAG1 0 genome.wustl.edu 37 3 136221520 136221520 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 136221520 136221520 C A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.778 p.G260W 1.000 pfam_STAG,superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 71 0 0.00 36 2 5.26 STAT2 0 genome.wustl.edu 37 12 56737903 56737903 + Nonsense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 56737903 56737903 G A SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known nonsense c.2119 p.Q707* 0.260 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 tier1 - - 90 0 0.00 86 5 5.49 STAU2 0 genome.wustl.edu 37 8 74650579 74650579 + RNA SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 74650579 74650579 C T SNP STAU2 ENST00000519818 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors STAU2 HGNC ENSG00000040341 tier1 - - 64 0 0.00 43 19 30.65 STK36 0 genome.wustl.edu 37 2 219563818 219563818 + Missense_Mutation SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 219563818 219563818 G C SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.3551 p.G1184A 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 tier1 - - 21 0 0.00 20 4 16.67 STYK1 0 genome.wustl.edu 37 12 10772778 10772778 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 10772778 10772778 C T SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.1234 p.V412M 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 tier1 - - 53 0 0.00 29 14 32.56 SULT1A1 0 genome.wustl.edu 37 16 28620135 28620135 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 28620135 28620135 G A SNP SULT1A1 ENST00000563493 human ensembl 74_37 -1 known missense c.184 p.R62C 0.008 NULL NULL - no_errors SULT1A1 HGNC ENSG00000196502 tier1 - - 175 0 0.00 137 25 15.43 SUZ12 0 genome.wustl.edu 37 17 30320963 30320963 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 30320963 30320963 G A SNP SUZ12 ENST00000322652 human ensembl 74_37 +1 known missense c.1373 p.R458H 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 72 0 0.00 51 3 5.56 SYN2 0 genome.wustl.edu 37 3 12225335 12225335 + RNA SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 12225335 12225335 C T SNP SYN2 ENST00000425297 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors SYN2 HGNC ENSG00000157152 tier1 - - 19 0 0.00 17 6 26.09 SYNE1 0 genome.wustl.edu 37 6 152545633 152545633 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 152545633 152545633 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21518 p.L7173R 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 82 0 0.00 57 16 21.92 SYNE1 0 genome.wustl.edu 37 6 152552690 152552690 + Missense_Mutation SNP C C G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 152552690 152552690 C G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.20875 p.D6959H 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 66 0 0.00 47 12 20.34 SYNE1 0 genome.wustl.edu 37 6 152639329 152639329 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 152639329 152639329 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16459 p.L5487V 0.983 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 71 0 0.00 25 28 52.83 SYTL2 0 genome.wustl.edu 37 11 85438059 85438059 + Missense_Mutation SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 85438059 85438059 T A SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.1013 p.K338M 0.074 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 62 0 0.00 81 9 10.00 TAF1 0 genome.wustl.edu 37 X 70749636 70749636 + RNA SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 70749636 70749636 G A SNP TAF1 ENST00000461764 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 60 0 0.00 25 16 39.02 TAF9B 0 genome.wustl.edu 37 X 77387169 77387169 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 77387169 77387169 C T SNP TAF9B ENST00000341864 human ensembl 74_37 -1 known missense c.694 p.A232T 0.001 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 tier1 - - 120 0 0.00 47 4 7.69 TANC1 0 genome.wustl.edu 37 2 160035291 160035291 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 160035291 160035291 C A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known silent c.2127 p.L709 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 74 0 0.00 61 4 6.15 TAS2R46 0 genome.wustl.edu 37 12 11214770 11214770 + Missense_Mutation SNP A A T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 11214770 11214770 A T SNP TAS2R46 ENST00000533467 human ensembl 74_37 -1 known missense c.124 p.S42T 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R46 HGNC ENSG00000226761 tier1 - - 139 0 0.00 97 14 12.50 TAS2R60 0 genome.wustl.edu 37 7 143140865 143140865 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 143140865 143140865 C A SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known missense c.320 p.T107N 0.036 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 tier1 - - 28 0 0.00 27 21 43.75 TBX6 0 genome.wustl.edu 37 16 30100078 30100078 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 30100078 30100078 C T SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known missense c.704 p.G235D 0.996 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX6 HGNC ENSG00000149922 44 0 0.00 38 2 5.00 TCEAL2 0 genome.wustl.edu 37 X 101381341 101381341 + RNA SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 X 101381341 101381341 G A SNP TCEAL2 ENST00000476749 human ensembl 74_37 +1 known rna NULL NULL 0.849 - - - no_errors TCEAL2 HGNC ENSG00000184905 tier1 - - 53 0 0.00 53 4 6.90 TDH 0 genome.wustl.edu 37 8 11213740 11213740 + RNA SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 11213740 11213740 G C SNP TDH ENST00000525246 human ensembl 74_37 +1 known rna NULL NULL 0.945 - - - no_errors TDH HGNC ENSG00000154316 tier1 - - 45 0 0.00 32 16 33.33 TDRD12 0 genome.wustl.edu 37 19 33246913 33246913 + Missense_Mutation SNP G G C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 33246913 33246913 G C SNP TDRD12 ENST00000444215 human ensembl 74_37 +1 known missense c.598 p.D200H 1.000 NULL pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors TDRD12 HGNC ENSG00000173809 40 0 0.00 38 3 7.32 TECRL 0 genome.wustl.edu 37 4 65275053 65275053 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 65275053 65275053 T C SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.17 p.K6R 0.982 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 112 0 0.00 62 30 32.26 TENM3 0 genome.wustl.edu 37 4 183674674 183674674 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 183674674 183674674 G T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known nonsense c.3934 p.G1312* 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 118 0 0.00 47 28 37.33 TET1 0 genome.wustl.edu 37 10 70333166 70333166 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 70333166 70333166 A C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.1071 p.E357D 0.024 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 75 0 0.00 37 23 38.33 TEX14 0 genome.wustl.edu 37 17 56661931 56661931 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 56661931 56661931 T G SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.3119 p.E1040A 0.006 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 32 0 0.00 34 3 8.11 TGDS 0 genome.wustl.edu 37 13 95229644 95229644 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 13 95229644 95229644 C T SNP TGDS ENST00000261296 human ensembl 74_37 -1 known missense c.865 p.V289I 1.000 pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 tier1 - - 127 0 0.00 89 22 19.82 THRA 0 genome.wustl.edu 37 17 38244559 38244559 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 38244559 38244559 C T SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.788 p.A263V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ThyrH_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 56 0 0.00 67 4 5.63 TIAM1 0 genome.wustl.edu 37 21 32508251 32508251 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 21 32508251 32508251 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3883 p.V1295F 1.000 smart_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 92 0 0.00 86 5 5.49 TIMP3 0 genome.wustl.edu 37 22 33253282 33253282 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 22 33253282 33253282 C T SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.251 p.T84M 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 tier1 - - 77 0 0.00 38 13 25.49 TLR4 0 genome.wustl.edu 37 9 120475898 120475898 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 120475898 120475898 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1492 p.L498V 0.773 pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 54 0 0.00 20 36 64.29 TMEM205 0 genome.wustl.edu 37 19 11456212 11456212 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 11456212 11456212 C A SNP TMEM205 ENST00000354882 human ensembl 74_37 -1 known missense c.84 p.W28C 1.000 NULL NULL - no_errors TMEM205 HGNC ENSG00000105518 67 0 0.00 92 5 5.15 TPD52L1 0 genome.wustl.edu 37 6 125583983 125583983 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 125583983 125583983 A G SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.490 p.K164E 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 tier1 - - 76 0 0.00 52 4 7.14 TPO 0 genome.wustl.edu 37 2 1499922 1499922 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 1499922 1499922 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2168 p.S723N 0.002 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 66 0 0.00 49 4 7.55 TRAF5 0 genome.wustl.edu 37 1 211542735 211542735 + RNA SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 211542735 211542735 A G SNP TRAF5 ENST00000473385 human ensembl 74_37 +1 known rna NULL NULL 0.652 - - - no_errors TRAF5 HGNC ENSG00000082512 tier1 - - 36 0 0.00 19 19 50.00 TRAM1 0 genome.wustl.edu 37 8 71495456 71495456 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 71495456 71495456 G T SNP TRAM1 ENST00000262213 human ensembl 74_37 -1 known missense c.994 p.P332T 0.998 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC ENSG00000067167 55 0 0.00 51 3 5.45 TRAM1L1 0 genome.wustl.edu 37 4 118005646 118005646 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 118005646 118005646 A G SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.904 p.S302P 0.839 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 - - 61 0 0.00 13 23 63.89 TRHDE 0 genome.wustl.edu 37 12 72956794 72956794 + Silent SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 72956794 72956794 T C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.1881 p.T627 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 82 0 0.00 40 27 40.30 TRIM22 0 genome.wustl.edu 37 11 5717484 5717484 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 5717484 5717484 G A SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known missense c.22 p.D8N 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 tier1 - - 71 0 0.00 49 32 39.02 TRIM58 0 genome.wustl.edu 37 1 248039702 248039702 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 248039702 248039702 T G SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.1372 p.L458V 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 tier1 - - 69 0 0.00 42 26 38.24 TRIM66 0 genome.wustl.edu 37 11 8669569 8669569 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 8669569 8669569 C A SNP TRIM66 ENST00000299550 human ensembl 74_37 -1 known missense c.355 p.V119L 1.000 smart_Bbox_C pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Znf_PHD,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors TRIM66 HGNC ENSG00000166436 tier1 - - 63 0 0.00 67 4 5.63 TRIOBP 0 genome.wustl.edu 37 22 38155470 38155470 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 22 38155470 38155470 G T SNP TRIOBP ENST00000407319 human ensembl 74_37 +1 known missense c.1232 p.S411I 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 35 0 0.00 28 3 9.68 TRMT10C 0 genome.wustl.edu 37 3 101283646 101283646 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 101283646 101283646 G T SNP TRMT10C ENST00000309922 human ensembl 74_37 +1 known missense c.21 p.M7I 1.000 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 67 0 0.00 37 3 7.50 TRPM1 0 genome.wustl.edu 37 15 31339406 31339406 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 31339406 31339406 C T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.1723 p.V575M 0.999 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 119 0 0.00 54 22 28.95 TRPV3 0 genome.wustl.edu 37 17 3436156 3436156 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 3436156 3436156 G A SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.860 p.T287M 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 tier1 rs200272068 - 37 0 0.00 14 11 44.00 TTI2 0 genome.wustl.edu 37 8 33361280 33361280 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 33361280 33361280 C A SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known silent c.1101 p.P367 0.865 pfam_DUF2454,superfamily_ARM-type_fold pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 37 0 0.00 34 2 5.56 TTN 0 genome.wustl.edu 37 2 179439329 179439329 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 179439329 179439329 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63826 p.T21276P 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 - - 73 0 0.00 45 22 32.35 TTN 0 genome.wustl.edu 37 2 179442443 179442443 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 179442443 179442443 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.61006 p.T20336P 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 - - 34 0 0.00 22 9 29.03 TTN 0 genome.wustl.edu 37 2 179598063 179598063 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 179598063 179598063 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.12225 p.K4075N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 75 0 0.00 37 10 21.28 TTN 0 genome.wustl.edu 37 2 179599578 179599578 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 179599578 179599578 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.11341 p.S3781R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 55 0 0.00 40 20 33.33 TTN 0 genome.wustl.edu 37 2 179590564 179590564 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 179590564 179590564 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16753 p.G5585C 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 70 0 0.00 56 3 5.08 UBE3B 0 genome.wustl.edu 37 12 109959273 109959273 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 12 109959273 109959273 C A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.2281 p.P761T 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 106 0 0.00 88 5 5.38 UBTF 0 genome.wustl.edu 37 17 42288694 42288694 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 17 42288694 42288694 C A SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.1053 p.K351N 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 65 0 0.00 49 3 5.77 UMODL1 0 genome.wustl.edu 37 21 43531545 43531545 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 21 43531545 43531545 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.2213 p.P738L 0.002 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 82 0 0.00 51 16 23.88 UNC13B 0 genome.wustl.edu 37 9 35396880 35396880 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 35396880 35396880 G T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.3231 p.E1077D 0.989 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 - - 101 0 0.00 69 5 6.67 UNC13C 0 genome.wustl.edu 37 15 54306737 54306737 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 15 54306737 54306737 T G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.1637 p.L546R 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 38 0 0.00 17 8 32.00 UNC5D 0 genome.wustl.edu 37 8 35583736 35583736 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 8 35583736 35583736 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1370 p.P457L 1.000 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 - - 93 0 0.00 66 14 17.50 USP35 0 genome.wustl.edu 37 11 77920009 77920009 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 11 77920009 77920009 G A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known missense c.1592 p.R531Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 tier1 - - 31 0 0.00 29 7 19.44 VCP 0 genome.wustl.edu 37 9 35060387 35060387 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 9 35060387 35060387 T C SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.1618 p.I540V 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 - - 69 0 0.00 47 8 14.55 VWDE 0 genome.wustl.edu 37 7 12380034 12380034 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 12380034 12380034 T C SNP VWDE ENST00000275358 human ensembl 74_37 -1 novel missense c.4280 p.D1427G 0.998 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_extracell,pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 84 0 0.00 95 15 13.64 WBP2NL 0 genome.wustl.edu 37 22 42397570 42397570 + RNA SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 22 42397570 42397570 C A SNP WBP2NL ENST00000461730 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WBP2NL HGNC ENSG00000183066 tier1 - - 31 0 0.00 20 3 13.04 WDR17 0 genome.wustl.edu 37 4 177056320 177056320 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 4 177056320 177056320 C A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1232 p.T411K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 WDR17 HGNC ENSG00000150627 tier1 - - 82 0 0.00 12 21 63.64 WFDC1 0 genome.wustl.edu 37 16 84353120 84353120 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 84353120 84353120 G A SNP WFDC1 ENST00000219454 human ensembl 74_37 +1 known missense c.505 p.D169N 0.827 NULL pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core - no_errors WFDC1 HGNC ENSG00000103175 tier1 - - 73 0 0.00 35 8 18.60 XDH 0 genome.wustl.edu 37 2 31560520 31560520 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 31560520 31560520 T G SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3938 p.K1313T 0.699 superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 44 0 0.00 40 8 16.67 XIRP2 0 genome.wustl.edu 37 2 168115487 168115487 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 168115487 168115487 A C SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2530 p.S844R 0.018 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 81 0 0.00 38 31 44.93 XIRP2 0 genome.wustl.edu 37 2 168115550 168115550 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 168115550 168115550 A C SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2593 p.N865H 0.916 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 148 0 0.00 101 18 15.13 ZAK 0 genome.wustl.edu 37 2 173955912 173955912 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 173955912 173955912 G T SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.153 p.E51D 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,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 tier1 - - 82 0 0.00 64 4 5.88 ZEB2 0 genome.wustl.edu 37 2 145255323 145255323 + RNA SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 2 145255323 145255323 T G SNP ZEB2 ENST00000434448 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 135 0 0.00 70 44 38.26 ZFHX3 0 genome.wustl.edu 37 16 72830565 72830565 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 72830565 72830565 G T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.6016 p.H2006N 1.000 superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 102 0 0.00 70 4 5.41 ZIC4-AS1 0 genome.wustl.edu 37 3 147105131 147105131 + RNA SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 3 147105131 147105131 A G SNP ZIC4-AS1 ENST00000462168 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZIC4-AS1 HGNC ENSG00000241202 tier1 - - 92 0 0.00 27 13 32.50 ZKSCAN3 0 genome.wustl.edu 37 6 28327544 28327544 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 6 28327544 28327544 C A SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known missense c.181 p.R61S 0.908 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 tier1 - - 81 0 0.00 59 4 6.35 ZNF208 0 genome.wustl.edu 37 19 22155029 22155029 + Missense_Mutation SNP T T A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 22155029 22155029 T A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2807 p.K936M 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 59 0 0.00 38 6 13.64 ZNF208 0 genome.wustl.edu 37 19 22156121 22156121 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 22156121 22156121 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1715 p.K572T 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 69 0 0.00 27 19 41.30 ZNF281 0 genome.wustl.edu 37 1 200378072 200378072 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 200378072 200378072 G T SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known silent c.762 p.L254 0.987 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 tier1 - - 46 0 0.00 30 4 11.76 ZNF33A 0 genome.wustl.edu 37 10 38344667 38344667 + Missense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 10 38344667 38344667 G T SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.1633 p.D545Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 76 0 0.00 46 3 6.12 ZNF469 0 genome.wustl.edu 37 16 88498472 88498472 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 16 88498472 88498472 C T SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.4510 p.R1504W 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 54 0 0.00 32 10 23.81 ZNF486 0 genome.wustl.edu 37 19 20278155 20278155 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 20278155 20278155 A G SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known missense c.16 p.R6G 0.001 superfamily_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 ZNF486 HGNC ENSG00000256229 tier1 - - 97 0 0.00 65 42 39.25 ZNF486 0 genome.wustl.edu 37 19 20308122 20308122 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 20308122 20308122 A C SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known missense c.603 p.K201N 0.655 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 tier1 - - 72 0 0.00 63 23 26.74 ZNF521 0 genome.wustl.edu 37 18 22806995 22806995 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 18 22806995 22806995 A G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.887 p.L296P 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 100 0 0.00 38 26 40.62 ZNF585B 0 genome.wustl.edu 37 19 37677166 37677166 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 37677166 37677166 A C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.1273 p.L425V 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585B HGNC ENSG00000245680 tier1 - - 79 0 0.00 55 17 23.61 ZNF679 0 genome.wustl.edu 37 7 63721262 63721262 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 63721262 63721262 G T SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known nonsense c.217 p.E73* 0.035 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 ZNF679 HGNC ENSG00000197123 tier1 - - 162 0 0.00 89 44 33.08 ZNF697 0 genome.wustl.edu 37 1 120165646 120165646 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 1 120165646 120165646 G A SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known silent c.1320 p.R440 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 tier1 - - 36 0 0.00 24 15 38.46 ZNF737 0 genome.wustl.edu 37 19 20727762 20727762 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 20727762 20727762 T G SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.1247 p.K416T 0.530 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 tier1 - - 46 0 0.00 57 14 19.72 ZNF804B 0 genome.wustl.edu 37 7 88964841 88964841 + Missense_Mutation SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 88964841 88964841 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2545 p.T849P 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 94 0 0.00 73 16 17.98 ZNF804B 0 genome.wustl.edu 37 7 88965052 88965052 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 7 88965052 88965052 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2756 p.E919G 0.009 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 113 0 0.00 96 19 16.52 ZNF880 0 genome.wustl.edu 37 19 52887527 52887527 + Silent SNP A A C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 52887527 52887527 A C SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known silent c.694 p.R232 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 tier1 - - 80 0 0.00 35 45 56.25 ZNF90 0 genome.wustl.edu 37 19 20188888 20188888 + RNA SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 20188888 20188888 G A SNP ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 - - 107 0 0.00 92 20 17.86 ZNF98 0 genome.wustl.edu 37 19 22575670 22575670 + Missense_Mutation SNP T T C TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe65b7bb-a8ad-4182-a07f-2bc2b663558d d9272e43-4e83-410c-b3fb-13ec8360c195 19 22575670 22575670 T C SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.367 p.R123G 0.080 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 tier1 - - 133 0 0.00 99 12 10.81