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 AATF 0 genome.wustl.edu 37 17 35310415 35310415 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 35310415 35310415 G T SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.513 p.E171D 1.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 tier1 - - 68 0 0.00 40 4 9.09 ABCA13 0 genome.wustl.edu 37 7 48564007 48564007 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 48564007 48564007 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.14215 p.D4739Y 0.091 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 79 0 0.00 53 3 5.26 ABCC4 0 genome.wustl.edu 37 13 95887085 95887085 + Frame_Shift_Del DEL T T - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 13 95887085 95887085 T - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.310 p.S104fs 0.001 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 tier1 49 0 0.00 13 2 13.33 ABCD2 0 genome.wustl.edu 37 12 39973422 39973422 + Splice_Site SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 39973422 39973422 C T SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known splice_site c.1793-1 e8-1 1.000 - - - no_errors ABCD2 HGNC ENSG00000173208 tier1 - - 39 0 0.00 32 11 25.00 ABCF3 0 genome.wustl.edu 37 3 183910411 183910411 + Missense_Mutation SNP A A G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 3 183910411 183910411 A G SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.1592 p.K531R 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 tier1 - - 46 0 0.00 44 15 25.42 ACAN 0 genome.wustl.edu 37 15 89391161 89391161 + Silent SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 89391161 89391161 C A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.1624 p.R542 0.689 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link 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 49 0 0.00 25 2 7.41 ANGEL2 0 genome.wustl.edu 37 1 213181560 213181560 + Missense_Mutation SNP C C G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 213181560 213181560 C G SNP ANGEL2 ENST00000366962 human ensembl 74_37 -1 known missense c.634 p.D212H 0.935 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 tier1 - - 43 0 0.00 18 46 71.88 ANK3 0 genome.wustl.edu 37 10 61834479 61834479 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 10 61834479 61834479 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.6160 p.E2054K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 54 0 0.00 66 4 5.71 ANKLE1 0 genome.wustl.edu 37 19 17396582 17396582 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 17396582 17396582 C T SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known silent c.1629 p.V543 0.394 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 tier1 - - 63 0 0.00 21 9 30.00 ANKLE2 0 genome.wustl.edu 37 12 133310659 133310660 + Splice_Site INS - - A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 133310659 133310660 0 A INS ANKLE2 ENST00000337516 human ensembl 74_37 -1 known splice_site_ins c.1892-3_1892-2 e11-2 0.024:0.026 - - - no_errors ANKLE2 HGNC ENSG00000176915 14 0 0.00 7 4 36.36 ANKRD32 0 genome.wustl.edu 37 5 93990359 93990359 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 93990359 93990359 G T SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.1057 p.A353S 0.916 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 - - 70 0 0.00 28 3 9.68 ANO9 0 genome.wustl.edu 37 11 432006 432006 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 11 432006 432006 C T SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known silent c.399 p.S133 0.000 NULL pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 tier1 - - 75 0 0.00 46 9 16.36 AP1G1 0 genome.wustl.edu 37 16 71842857 71842857 + RNA SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 16 71842857 71842857 C T SNP AP1G1 ENST00000565161 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP1G1 HGNC ENSG00000166747 tier1 - - 32 0 0.00 45 12 21.05 APAF1 0 genome.wustl.edu 37 12 99117533 99117533 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 99117533 99117533 G T SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.3321 p.K1107N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 76 0 0.00 58 4 6.45 APC2 0 genome.wustl.edu 37 19 1456085 1456085 + Missense_Mutation SNP C C G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 1456085 1456085 C G SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.650 p.S217W 0.982 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 15 0 0.00 9 3 25.00 BCAT2 0 genome.wustl.edu 37 19 49309924 49309924 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 49309924 49309924 G T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known silent c.150 p.G50 0.000 superfamily_Aminotrans_IV,pirsf_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 74 0 0.00 35 4 10.26 BCL2L1 0 genome.wustl.edu 37 20 30309595 30309595 + Missense_Mutation SNP A A G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 30309595 30309595 A G SNP BCL2L1 ENST00000307677 human ensembl 74_37 -1 known missense c.427 p.F143L 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX - no_errors BCL2L1 HGNC ENSG00000171552 136 0 0.00 65 4 5.80 BRPF3 0 genome.wustl.edu 37 6 36193106 36193106 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 36193106 36193106 G A SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.3244 p.A1082T 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 tier1 - - 65 0 0.00 40 4 9.09 BSCL2 0 genome.wustl.edu 37 11 62473729 62473729 + Splice_Site SNP A A T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 11 62473729 62473729 A T SNP BSCL2 ENST00000421906 human ensembl 74_37 -1 known splice_site c.1+2 e0+2 0.999 - - - no_errors BSCL2 HGNC ENSG00000168000 tier1 - - 10 0 0.00 9 5 35.71 C19orf48 0 genome.wustl.edu 37 19 51302010 51302010 + RNA SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 51302010 51302010 G T SNP C19orf48 ENST00000595794 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C19orf48 HGNC ENSG00000167747 tier1 - - 36 0 0.00 16 3 15.79 C3P1 0 genome.wustl.edu 37 19 10172629 10172629 + RNA SNP A A G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 10172629 10172629 A G SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors C3P1 HGNC ENSG00000167798 tier1 - - 54 0 0.00 29 4 12.12 C4orf21 0 genome.wustl.edu 37 4 113461239 113461239 + Missense_Mutation SNP A A T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 113461239 113461239 A T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.5952 p.D1984E 0.000 superfamily_P-loop_NTPase pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 17 0 0.00 13 11 45.83 C9orf106 0 genome.wustl.edu 37 9 132084746 132084746 + RNA SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 132084746 132084746 G A SNP C9orf106 ENST00000316786 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors C9orf106 HGNC ENSG00000179082 tier1 - - 56 0 0.00 27 4 12.90 CCNB1 0 genome.wustl.edu 37 5 68463111 68463111 + Splice_Site SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 68463111 68463111 G T SNP CCNB1 ENST00000256442 human ensembl 74_37 +1 known splice_site c.21+1 e1+1 1.000 - - - no_errors CCNB1 HGNC ENSG00000134057 45 0 0.00 37 3 7.50 CD101 0 genome.wustl.edu 37 1 117561053 117561053 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 117561053 117561053 G T SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.1888 p.A630S 0.958 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 39 0 0.00 29 3 9.38 CDAN1 0 genome.wustl.edu 37 15 43021258 43021258 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 43021258 43021258 C T SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.2608 p.A870T 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 tier1 - - 104 0 0.00 35 4 10.26 CDC42BPB 0 genome.wustl.edu 37 14 103440404 103440404 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 14 103440404 103440404 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.1590 p.G530 0.592 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 79 0 0.00 38 4 9.52 CENPF 0 genome.wustl.edu 37 1 214818975 214818975 + Missense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 214818975 214818975 C A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6062 p.S2021Y 0.770 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 46 0 0.00 36 2 5.26 CEP164 0 genome.wustl.edu 37 11 117261524 117261526 + In_Frame_Del DEL GAG GAG - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 11 117261524 117261526 GAG - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known in_frame_del c.1966_1968 p.E659in_frame_del 0.348:0.986:0.998 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 tier1 52 0 0.00 18 2 10.00 CHGB 0 genome.wustl.edu 37 20 5904465 5904465 + Nonsense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 5904465 5904465 G T SNP CHGB ENST00000378961 human ensembl 74_37 +1 known nonsense c.1675 p.E559* 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 70 0 0.00 28 2 6.67 CHTOP 0 genome.wustl.edu 37 1 153610701 153610701 + RNA SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 153610701 153610701 G T SNP CHTOP ENST00000495554 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHTOP HGNC ENSG00000160679 tier1 - - 48 0 0.00 72 4 5.26 CHUK 0 genome.wustl.edu 37 10 101964869 101964871 + In_Frame_Del DEL TCT TCT - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 10 101964869 101964871 TCT - DEL CHUK ENST00000370397 human ensembl 74_37 -1 known in_frame_del c.1319_1317 p.E439in_frame_del 1.000:1.000:0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,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 CHUK HGNC ENSG00000213341 tier1 80 0 0.00 58 24 29.27 CMYA5 0 genome.wustl.edu 37 5 79031681 79031681 + Nonsense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 79031681 79031681 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known nonsense c.7093 p.E2365* 0.066 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 65 0 0.00 26 2 7.14 CRB1 0 genome.wustl.edu 37 1 197411469 197411470 + Frame_Shift_Del DEL TT TT - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 197411469 197411470 TT - DEL CRB1 ENST00000484075 human ensembl 74_37 +1 known frame_shift_del c.4052_4053 p.F1352fs 1.000:1.000 NULL 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 38 0 0.00 35 7 16.67 CSMD1 0 genome.wustl.edu 37 8 2986325 2986326 + RNA INS - - T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 8 2986325 2986326 - T INS CSMD1 ENST00000523387 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CSMD1 HGNC ENSG00000183117 tier1 35 0 0.00 35 4 10.26 DCAF15 0 genome.wustl.edu 37 19 14066943 14066943 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 14066943 14066943 C T SNP DCAF15 ENST00000254337 human ensembl 74_37 +1 known missense c.482 p.S161L 0.963 NULL NULL - no_errors DCAF15 HGNC ENSG00000132017 tier1 - - 64 0 0.00 9 17 65.38 DCAF4L2 0 genome.wustl.edu 37 8 88885799 88885799 + Nonsense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 8 88885799 88885799 G T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known nonsense c.401 p.S134* 0.842 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 46 0 0.00 21 2 8.70 DEFB125 0 genome.wustl.edu 37 20 76735 76735 + Missense_Mutation SNP A A G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 76735 76735 A G SNP DEFB125 ENST00000382410 human ensembl 74_37 +1 known missense c.148 p.R50G 0.235 NULL NULL - no_errors DEFB125 HGNC ENSG00000178591 tier1 - - 62 0 0.00 32 13 28.89 DLX3 0 genome.wustl.edu 37 17 48072324 48072324 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 48072324 48072324 G T SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known silent c.39 p.L13 1.000 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 tier1 - - 34 0 0.00 25 4 13.79 DNAAF1 0 genome.wustl.edu 37 16 84182611 84182611 + Splice_Site SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 16 84182611 84182611 G T SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known splice_site c.125-1 e2-1 0.995 - - - no_errors DNAAF1 HGNC ENSG00000154099 tier1 - - 39 0 0.00 10 11 52.38 DNAH3 0 genome.wustl.edu 37 16 20999357 20999357 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 16 20999357 20999357 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.6632 p.S2211Y 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 21 0 0.00 21 2 8.70 DNAH8 0 genome.wustl.edu 37 6 38957896 38957896 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 38957896 38957896 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.12511 p.P4171S 0.999 pfam_Dynein_heavy_dom 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 DNAH8 HGNC ENSG00000124721 tier1 - - 90 0 0.00 45 34 43.04 DNM1P47 0 genome.wustl.edu 37 15 102299859 102299859 + RNA SNP T T C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 102299859 102299859 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 41 0 0.00 23 3 11.54 ELOVL2 0 genome.wustl.edu 37 6 10995243 10995243 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 10995243 10995243 G T SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known missense c.502 p.Q168K 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 46 0 0.00 34 2 5.56 ENDOG 0 genome.wustl.edu 37 9 131584886 131584886 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 131584886 131584886 G T SNP ENDOG ENST00000372642 human ensembl 74_37 +1 known missense c.891 p.K297N 1.000 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors ENDOG HGNC ENSG00000167136 tier1 - - 80 0 0.00 42 4 8.70 ENDOV 0 genome.wustl.edu 37 17 78397414 78397414 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 78397414 78397414 C T SNP ENDOV ENST00000522577 human ensembl 74_37 +1 known missense c.323 p.T108M 0.001 NULL pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 116 0 0.00 75 4 5.06 ENSG00000225946 0 genome.wustl.edu 37 7 100608201 100608201 + RNA SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 100608201 100608201 C T SNP ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 rs77005990 - 21 0 0.00 23 10 30.30 ENSG00000255817 0 genome.wustl.edu 37 12 64502653 64502653 + RNA SNP T T A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 64502653 64502653 T A SNP ENSG00000255817 ENST00000535806 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors RP11-196H14.4 Clone_based_vega_gene ENSG00000255817 tier1 - - 22 0 0.00 15 10 40.00 ENSG00000265263 0 genome.wustl.edu 37 17 19238487 19238487 + RNA SNP T T A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 19238487 19238487 T A SNP ENSG00000265263 ENST00000581122 human ensembl 74_37 -1 known rna NULL NULL 0.043 - - - no_errors RP11-135L13.4 Clone_based_vega_gene ENSG00000265263 tier1 - - 86 0 0.00 41 5 10.87 ENSG00000266106 0 genome.wustl.edu 37 17 72305580 72305580 + RNA SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 72305580 72305580 G A SNP ENSG00000266106 ENST00000585167 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-647F2.2 Clone_based_vega_gene ENSG00000266106 tier1 - - 43 0 0.00 21 4 16.00 F12 0 genome.wustl.edu 37 5 176829303 176829303 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 176829303 176829303 G T SNP F12 ENST00000253496 human ensembl 74_37 -1 known missense c.1838 p.T613N 0.065 pirsf_Coagulation_fac_XIIa/HGFA,superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors F12 HGNC ENSG00000131187 tier1 - - 40 0 0.00 20 3 13.04 FAIM 0 genome.wustl.edu 37 3 138329850 138329850 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 3 138329850 138329850 C T SNP FAIM ENST00000338446 human ensembl 74_37 +1 known silent c.51 p.L17 0.000 NULL pfam_FAIM - no_errors FAIM HGNC ENSG00000158234 tier1 - - 54 0 0.00 29 16 35.56 FAM114A2 0 genome.wustl.edu 37 5 153405922 153405922 + RNA SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 153405922 153405922 G A SNP FAM114A2 ENST00000518735 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors FAM114A2 HGNC ENSG00000055147 tier1 - - 52 0 0.00 22 3 12.00 FAM120C 0 genome.wustl.edu 37 X 54186038 54186038 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 X 54186038 54186038 G T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.711 p.S237R 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 - - 47 0 0.00 21 4 16.00 FAM151B 0 genome.wustl.edu 37 5 79817926 79817926 + Nonsense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 79817926 79817926 C T SNP FAM151B ENST00000282226 human ensembl 74_37 +1 known nonsense c.640 p.Q214* 0.941 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151B HGNC ENSG00000152380 96 0 0.00 33 3 8.33 FAM154A 0 genome.wustl.edu 37 9 18928887 18928887 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 18928887 18928887 G T SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known silent c.588 p.L196 0.005 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 tier1 - - 80 0 0.00 43 4 8.51 FAM194A 0 genome.wustl.edu 37 3 150396294 150396294 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 3 150396294 150396294 G T SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.1159 p.P387T 0.008 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 tier1 - - 60 0 0.00 35 4 10.26 FAT4 0 genome.wustl.edu 37 4 126400925 126400925 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 126400925 126400925 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12503 p.R4168H 0.002 superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 67 0 0.00 55 3 5.17 FERMT2 0 genome.wustl.edu 37 14 53326257 53326257 + RNA SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 14 53326257 53326257 G A SNP FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 - - 48 0 0.00 21 17 44.74 FRMPD2 0 genome.wustl.edu 37 10 49392645 49392645 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 10 49392645 49392645 G T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.2548 p.P850T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 71 0 0.00 42 3 6.67 GCDH 0 genome.wustl.edu 37 19 13010666 13010666 + RNA SNP C C G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 13010666 13010666 C G SNP GCDH ENST00000588242 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GCDH HGNC ENSG00000105607 tier1 - - 32 0 0.00 5 11 68.75 GCNT2 0 genome.wustl.edu 37 6 10586824 10586824 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 10586824 10586824 G T SNP GCNT2 ENST00000265012 human ensembl 74_37 +1 known missense c.602 p.R201L 0.252 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 48 0 0.00 17 2 10.53 GGT7 0 genome.wustl.edu 37 20 33451262 33451262 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 33451262 33451262 C T SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.259 p.E87K 0.995 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 tier1 - - 37 0 0.00 25 5 16.67 GMEB2 0 genome.wustl.edu 37 20 62221818 62221818 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 62221818 62221818 G A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.1217 p.P406L 0.989 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 tier1 - - 20 0 0.00 12 10 45.45 GPC6 0 genome.wustl.edu 37 13 94482415 94482415 + Nonsense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 13 94482415 94482415 C T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known nonsense c.328 p.R110* 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 84 0 0.00 37 2 5.13 GPR116 0 genome.wustl.edu 37 6 46828573 46828573 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 46828573 46828573 G T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.2258 p.S753Y 0.950 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 62 0 0.00 36 4 10.00 GPR142 0 genome.wustl.edu 37 17 72363872 72363872 + Silent SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 72363872 72363872 C A SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known silent c.228 p.S76 0.991 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 tier1 - - 30 0 0.00 32 4 11.11 HECTD4 0 genome.wustl.edu 37 12 112720968 112720968 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 112720968 112720968 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1042 p.L348F 0.777 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 46 0 0.00 29 24 45.28 HECW1-IT1 0 genome.wustl.edu 37 7 43157831 43157831 + RNA DEL A A - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 43157831 43157831 A - DEL HECW1-IT1 ENST00000322220 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HECW1-IT1 HGNC ENSG00000181211 tier1 45 0 0.00 42 4 8.70 HGS 0 genome.wustl.edu 37 17 79662971 79662971 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 79662971 79662971 C T SNP HGS ENST00000329138 human ensembl 74_37 +1 known silent c.1335 p.S445 1.000 pfam_HRS_helical,pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 tier1 - - 35 0 0.00 13 11 45.83 HOXD10 0 genome.wustl.edu 37 2 176983939 176983939 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 2 176983939 176983939 G T SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known missense c.1003 p.A335S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 81 0 0.00 57 4 6.56 IGHMBP2 0 genome.wustl.edu 37 11 68675711 68675711 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 11 68675711 68675711 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.355 p.D119N 1.000 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 tier1 - - 84 0 0.00 635 98 13.37 IKBKE 0 genome.wustl.edu 37 1 206653841 206653841 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 206653841 206653841 C T SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known silent c.1392 p.S464 0.745 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 IKBKE HGNC ENSG00000143466 tier1 - - 56 0 0.00 18 50 73.53 IQGAP1 0 genome.wustl.edu 37 15 91026647 91026647 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 91026647 91026647 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.3610 p.D1204N 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 tier1 - - 68 0 0.00 57 4 6.56 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42133260 42133260 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 42133260 42133260 G T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.1052 p.G351V 0.000 superfamily_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 58 0 0.00 41 3 6.82 KBTBD6 0 genome.wustl.edu 37 13 41705906 41705906 + Nonsense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 13 41705906 41705906 C A SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known nonsense c.742 p.E248* 1.000 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 42 0 0.00 48 4 7.69 KIAA1407 0 genome.wustl.edu 37 3 113697175 113697175 + Missense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 3 113697175 113697175 C A SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.2464 p.V822L 0.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 - - 49 0 0.00 38 4 9.52 KLHL9 0 genome.wustl.edu 37 9 21333629 21333629 + Silent SNP A A G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 21333629 21333629 A G SNP KLHL9 ENST00000359039 human ensembl 74_37 -1 known silent c.1230 p.A410 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 KLHL9 HGNC ENSG00000198642 59 0 0.00 35 2 5.41 LAMA5 0 genome.wustl.edu 37 20 60912736 60912736 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 60912736 60912736 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2074 p.R692W 0.003 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 61 0 0.00 46 25 35.21 LGI2 0 genome.wustl.edu 37 4 25005844 25005844 + Silent SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 25005844 25005844 G A SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known silent c.867 p.V289 0.997 pfam_EPTP pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 27 0 0.00 34 2 5.56 LGSN 0 genome.wustl.edu 37 6 63995557 63995557 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 63995557 63995557 G T SNP LGSN ENST00000370657 human ensembl 74_37 -1 known silent c.265 p.R89 0.999 pfam_Gln_synt_beta,superfamily_Gln_synt_beta pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 74 0 0.00 35 2 5.41 LILRB5 0 genome.wustl.edu 37 19 54761022 54761022 + Splice_Site SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 54761022 54761022 C T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known splice_site c.34+1 e1+1 0.978 - - - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 77 0 0.00 28 4 12.50 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 17 0 0.00 19 3 13.64 LRRC63 0 genome.wustl.edu 37 13 46844683 46844683 + Nonsense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 13 46844683 46844683 G T SNP LRRC63 ENST00000446175 human ensembl 74_37 +1 known nonsense c.1672 p.E558* 0.983 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 tier1 - - 48 0 0.00 16 4 20.00 MAPK6 0 genome.wustl.edu 37 15 52356854 52356854 + Missense_Mutation SNP A A T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 52356854 52356854 A T SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known missense c.1823 p.N608I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 tier1 - - 111 0 0.00 31 46 59.74 MED12L 0 genome.wustl.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 3 151148114 151148116 CAG - DEL MED12L ENST00000474524 human ensembl 74_37 +1 known in_frame_del c.6331_6333 p.Q2114in_frame_del 0.998:1.000:1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 37 0 0.00 35 2 5.41 MLF1IP 0 genome.wustl.edu 37 4 185631239 185631239 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 185631239 185631239 G T SNP MLF1IP ENST00000281453 human ensembl 74_37 -1 known missense c.784 p.H262N 0.000 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 tier1 - - 48 0 0.00 74 4 5.13 MLXIPL 0 genome.wustl.edu 37 7 73008267 73008267 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 73008267 73008267 C T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known silent c.2487 p.L829 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 tier1 - - 53 0 0.00 6 8 57.14 MROH1 0 genome.wustl.edu 37 8 145247236 145247236 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 8 145247236 145247236 G T SNP MROH1 ENST00000326134 human ensembl 74_37 +1 known missense c.880 p.A294S 0.540 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 tier1 - - 72 0 0.00 42 11 20.75 MRPS12 0 genome.wustl.edu 37 19 39422990 39422990 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 39422990 39422990 C T SNP MRPS12 ENST00000308018 human ensembl 74_37 +1 known missense c.67 p.R23W 0.127 NULL pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_S12/S23,prints_Ribosomal_S12_bac,tigrfam_Ribosomal_S12_bac - no_errors MRPS12 HGNC ENSG00000128626 tier1 rs150096976 - 101 0 0.00 44 35 44.30 MUC12 0 genome.wustl.edu 37 7 100652423 100652423 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 100652423 100652423 G T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known silent c.15234 p.V5078 0.005 pfam_SEA_dom pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 55 0 0.00 62 4 6.06 MUM1L1 0 genome.wustl.edu 37 X 105450010 105450010 + Frame_Shift_Del DEL T T - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 X 105450010 105450010 T - DEL MUM1L1 ENST00000337685 human ensembl 74_37 +1 known frame_shift_del c.585 p.F196fs 0.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 34 0 0.00 7 2 22.22 MVP 0 genome.wustl.edu 37 16 29853263 29853263 + Silent SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 16 29853263 29853263 G A SNP MVP ENST00000357402 human ensembl 74_37 +1 known silent c.1464 p.S488 0.001 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 48 0 0.00 35 4 10.26 MYOM2 0 genome.wustl.edu 37 8 2040194 2040194 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 8 2040194 2040194 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.1849 p.R617W 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 82 0 0.00 61 10 13.89 NCAPD3 0 genome.wustl.edu 37 11 134027864 134027864 + Frame_Shift_Del DEL A A - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 11 134027864 134027864 A - DEL NCAPD3 ENST00000534548 human ensembl 74_37 -1 known frame_shift_del c.4133 p.F1378fs 0.015 pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 71 0 0.00 14 2 12.50 NCF4 0 genome.wustl.edu 37 22 37271717 37271717 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 22 37271717 37271717 G A SNP NCF4 ENST00000397147 human ensembl 74_37 +1 known missense c.650 p.G217D 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 37 0 0.00 21 4 16.00 NDUFA13 0 genome.wustl.edu 37 19 19638875 19638875 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 19638875 19638875 C T SNP NDUFA13 ENST00000252576 human ensembl 74_37 +1 known silent c.624 p.Y208 0.003 pfam_GRIM-19 pfam_GRIM-19 - no_errors NDUFA13 HGNC ENSG00000186010 tier1 rs141026032 - 141 0 0.00 50 4 7.41 NF1 0 genome.wustl.edu 37 17 29562747 29562747 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 29562747 29562747 G T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.3827 p.R1276L 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 39 0 0.00 45 3 6.25 NGRN 0 genome.wustl.edu 37 15 90814887 90814887 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 90814887 90814887 G A SNP NGRN ENST00000379095 human ensembl 74_37 +1 known missense c.743 p.G248D 0.000 pfam_Neugrin-related pfam_Neugrin-related - no_errors NGRN HGNC ENSG00000182768 tier1 - - 64 0 0.00 39 4 9.30 NOS1 0 genome.wustl.edu 37 12 117698402 117698402 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 117698402 117698402 G T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.2235 p.F745L 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 48 0 0.00 35 2 5.41 NR2E3 0 genome.wustl.edu 37 15 72105933 72105933 + RNA SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 72105933 72105933 C A SNP NR2E3 ENST00000326995 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NR2E3 HGNC ENSG00000031544 35 0 0.00 18 5 21.74 NR2E3 0 genome.wustl.edu 37 15 72105934 72105934 + RNA SNP A A C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 72105934 72105934 A C SNP NR2E3 ENST00000326995 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NR2E3 HGNC ENSG00000031544 36 0 0.00 18 5 21.74 NUAK1 0 genome.wustl.edu 37 12 106532214 106532214 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 106532214 106532214 G T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.218 p.T73N 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 - - 59 0 0.00 63 5 7.35 NVL 0 genome.wustl.edu 37 1 224492452 224492452 + Missense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 224492452 224492452 C A SNP NVL ENST00000281701 human ensembl 74_37 -1 known missense c.811 p.D271Y 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 60 0 0.00 32 2 5.88 PAAF1 0 genome.wustl.edu 37 11 73602202 73602202 + Frame_Shift_Del DEL T T - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 11 73602202 73602202 T - DEL PAAF1 ENST00000310571 human ensembl 74_37 +1 known frame_shift_del c.238 p.L81fs 1.000 smart_WD40_repeat 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 PAAF1 HGNC ENSG00000175575 tier1 40 0 0.00 18 2 10.00 PANK2 0 genome.wustl.edu 37 20 3891428 3891428 + Missense_Mutation SNP A A T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 3891428 3891428 A T SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known missense c.1186 p.I396F 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 tier1 - - 67 0 0.00 24 23 48.94 PAPD5 0 genome.wustl.edu 37 16 50263693 50263693 + RNA DEL T T - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 16 50263693 50263693 T - DEL PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.737 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 73 0 0.00 42 5 10.64 PAPPA 0 genome.wustl.edu 37 9 118949925 118949925 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 118949925 118949925 G T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.908 p.G303V 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 28 0 0.00 16 3 15.79 PAX6 0 genome.wustl.edu 37 11 31822342 31822342 + Silent SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 11 31822342 31822342 G A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known silent c.462 p.D154 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 tier1 rs1800427 - 57 0 0.00 28 8 22.22 PAXIP1 0 genome.wustl.edu 37 7 154739621 154739621 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 154739621 154739621 G T SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.2914 p.L972I 1.000 smart_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 43 0 0.00 38 3 7.32 PDE1C 0 genome.wustl.edu 37 7 31876883 31876883 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 31876883 31876883 G T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.1114 p.L372M 0.996 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 22 0 0.00 20 2 9.09 PDS5B 0 genome.wustl.edu 37 13 33349165 33349165 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 13 33349165 33349165 G T SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.4319 p.R1440L 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 56 0 0.00 30 3 9.09 PEX19 0 genome.wustl.edu 37 1 160249322 160249322 + RNA SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 160249322 160249322 G T SNP PEX19 ENST00000532508 human ensembl 74_37 -1 known rna NULL NULL 0.083 - - - no_errors PEX19 HGNC ENSG00000162735 tier1 - - 53 0 0.00 36 5 12.20 PHF14 0 genome.wustl.edu 37 7 11068427 11068427 + Silent SNP A A G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 11068427 11068427 A G SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known silent c.1437 p.S479 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 67 0 0.00 50 3 5.66 PLA2G6 0 genome.wustl.edu 37 22 38519192 38519192 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 22 38519192 38519192 C T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.1501 p.E501K 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 tier1 - - 54 0 0.00 15 11 42.31 PNLIPRP3 0 genome.wustl.edu 37 10 118203905 118203905 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 10 118203905 118203905 G T SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.336 p.Q112H 0.041 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 61 0 0.00 55 3 5.17 POTEH-AS1 0 genome.wustl.edu 37 22 16278260 16278260 + RNA SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 22 16278260 16278260 C A SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 rs200660281 - 8 0 0.00 2 4 66.67 PPM1J 0 genome.wustl.edu 37 1 113254598 113254598 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 113254598 113254598 G T SNP PPM1J ENST00000309276 human ensembl 74_37 -1 known missense c.922 p.L308M 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1J HGNC ENSG00000155367 132 0 0.00 51 4 7.27 PRAMEF6 0 genome.wustl.edu 37 1 13111518 13111518 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 13111518 13111518 C T SNP PRAMEF6 ENST00000376182 human ensembl 74_37 -1 known missense c.497 p.C166Y 0.001 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 13 0 0.00 3 7 70.00 PRPF4 0 genome.wustl.edu 37 9 116050502 116050502 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 116050502 116050502 G T SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known missense c.983 p.R328L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 83 0 0.00 31 2 6.06 PRRC2C 0 genome.wustl.edu 37 1 171511112 171511112 + Nonsense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 171511112 171511112 G T SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known nonsense c.4507 p.E1503* 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 43 0 0.00 20 3 13.04 PSME4 0 genome.wustl.edu 37 2 54148193 54148193 + Missense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 2 54148193 54148193 C A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.2095 p.V699L 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 98 0 0.00 72 4 5.26 PTPRD 0 genome.wustl.edu 37 9 8341759 8341759 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 8341759 8341759 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.4881 p.A1627 1.000 NULL 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 64 0 0.00 34 2 5.56 PWAR6 0 genome.wustl.edu 37 15 25277593 25277593 + RNA SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 25277593 25277593 C T SNP PWAR6 ENST00000552334 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PWAR6 HGNC ENSG00000257151 tier1 - - 37 0 0.00 15 3 16.67 RASSF4 0 genome.wustl.edu 37 10 45480350 45480351 + Frame_Shift_Ins INS - - C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 10 45480350 45480351 - C INS RASSF4 ENST00000334940 human ensembl 74_37 +1 known frame_shift_ins c.490_491 p.G166fs 0.000:0.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 tier1 30 0 0.00 24 12 33.33 RCHY1 0 genome.wustl.edu 37 4 76407873 76407873 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 76407873 76407873 G T SNP RCHY1 ENST00000324439 human ensembl 74_37 -1 known missense c.661 p.L221I 1.000 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC ENSG00000163743 49 0 0.00 39 3 7.14 RFX2 0 genome.wustl.edu 37 19 5997222 5997222 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 5997222 5997222 G T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1862 p.S621Y 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 tier1 - - 67 0 0.00 66 4 5.71 SART3 0 genome.wustl.edu 37 12 108919248 108919248 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 108919248 108919248 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.2509 p.A837T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 62 0 0.00 40 4 9.09 SCUBE1 0 genome.wustl.edu 37 22 43627758 43627758 + Splice_Site DEL C C - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 22 43627758 43627758 C 0 DEL SCUBE1 ENST00000360835 human ensembl 74_37 -1 known splice_site_del c.967+1 e8+1 1.000 - - - no_errors SCUBE1 HGNC ENSG00000159307 11 0 0.00 4 2 33.33 SEC24B 0 genome.wustl.edu 37 4 110427668 110427668 + Missense_Mutation SNP A A T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 110427668 110427668 A T SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.1673 p.D558V 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 tier1 - - 63 0 0.00 21 57 73.08 SIGLEC5 0 genome.wustl.edu 37 19 52132662 52132662 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 52132662 52132662 G A SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.649 p.R217C 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 - - 70 0 0.00 33 31 48.44 SLC16A11 0 genome.wustl.edu 37 17 6945037 6945037 + Silent SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 6945037 6945037 G A SNP SLC16A11 ENST00000308009 human ensembl 74_37 -1 known silent c.1377 p.S459 0.006 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 tier1 - - 25 0 0.00 4 15 78.95 SLC25A18 0 genome.wustl.edu 37 22 18063897 18063897 + Nonsense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 22 18063897 18063897 C T SNP SLC25A18 ENST00000327451 human ensembl 74_37 +1 known nonsense c.115 p.Q39* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A18 HGNC ENSG00000182902 tier1 - - 66 0 0.00 16 16 50.00 SLC25A25 0 genome.wustl.edu 37 9 130864648 130864648 + Splice_Site SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 130864648 130864648 G T SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known splice_site c.513-1 e5-1 1.000 - - - no_errors SLC25A25 HGNC ENSG00000148339 tier1 - - 40 0 0.00 19 3 13.64 SLC30A9 0 genome.wustl.edu 37 4 42024887 42024887 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 42024887 42024887 G T SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known missense c.467 p.R156L 1.000 superfamily_DNA-bd_dom_put pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 27 0 0.00 31 2 6.06 SLC51A 0 genome.wustl.edu 37 3 195956804 195956804 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 3 195956804 195956804 G T SNP SLC51A ENST00000296327 human ensembl 74_37 +1 known missense c.652 p.A218S 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors SLC51A HGNC ENSG00000163959 26 0 0.00 60 4 6.25 SLC8A3 0 genome.wustl.edu 37 14 70634851 70634851 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 14 70634851 70634851 G T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.289 p.R97S 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 57 0 0.00 34 2 5.56 SLCO1B3 0 genome.wustl.edu 37 12 21069005 21069005 + Missense_Mutation SNP T T G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 21069005 21069005 T G SNP SLCO1B3 ENST00000261196 human ensembl 74_37 +1 known missense c.1933 p.F645V 0.002 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 69 0 0.00 29 26 47.27 SLCO3A1 0 genome.wustl.edu 37 15 92459455 92459455 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 92459455 92459455 G T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.413 p.G138V 0.994 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 33 0 0.00 33 4 10.81 SPANXC 0 genome.wustl.edu 37 X 140335650 140335650 + Nonstop_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 X 140335650 140335650 C A SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known nonstop c.294 p.*98Y 0.003 NULL pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 tier1 - - 57 0 0.00 14 19 57.58 SSPO 0 genome.wustl.edu 37 7 149485872 149485872 + RNA SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 149485872 149485872 G T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 42 0 0.00 12 3 20.00 STAT6 0 genome.wustl.edu 37 12 57492339 57492339 + Missense_Mutation SNP T T A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 12 57492339 57492339 T A SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known missense c.2108 p.Y703F 0.408 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,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 STAT6 HGNC ENSG00000166888 tier1 - - 80 0 0.00 15 20 57.14 SUPT5H 0 genome.wustl.edu 37 19 39949653 39949653 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 39949653 39949653 G T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.398 p.R133L 1.000 pfam_Spt5_N,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 67 0 0.00 24 2 7.69 SYNE1 0 genome.wustl.edu 37 6 152737763 152737763 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 152737763 152737763 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.5809 p.L1937M 0.750 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 23 0 0.00 34 2 5.56 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 tier1 22 0 0.00 15 2 11.76 TANC1 0 genome.wustl.edu 37 2 160027186 160027186 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 2 160027186 160027186 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known silent c.1221 p.N407 0.452 superfamily_P-loop_NTPase 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 tier1 - - 97 0 0.00 36 31 46.27 TASP1 0 genome.wustl.edu 37 20 13567947 13567947 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 13567947 13567947 C T SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.353 p.S118N 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 tier1 - - 65 0 0.00 56 4 6.67 TBC1D32 0 genome.wustl.edu 37 6 121526252 121526252 + Missense_Mutation SNP T T C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 121526252 121526252 T C SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2539 p.N847D 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 188 0 0.00 43 34 44.16 TBX1 0 genome.wustl.edu 37 22 19770479 19770479 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 22 19770479 19770479 C T SNP TBX1 ENST00000359500 human ensembl 74_37 +1 known silent c.1053 p.D351 0.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 84 0 0.00 24 2 7.69 TCHH 0 genome.wustl.edu 37 1 152084666 152084666 + Missense_Mutation SNP G G C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 152084666 152084666 G C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.1027 p.Q343E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 52 0 0.00 128 7 5.15 TGFBI 0 genome.wustl.edu 37 5 135391471 135391471 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 135391471 135391471 G T SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.1513 p.V505F 0.978 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,superfamily_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 93 0 0.00 17 2 10.53 THSD4 0 genome.wustl.edu 37 15 72057376 72057376 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 72057376 72057376 G T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known silent c.2607 p.G869 0.002 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 105 0 0.00 70 4 5.41 TLCD1 0 genome.wustl.edu 37 17 27051812 27051812 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 27051812 27051812 G T SNP TLCD1 ENST00000292090 human ensembl 74_37 -1 known missense c.460 p.R154S 0.270 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 49 0 0.00 34 2 5.56 TMEM131 0 genome.wustl.edu 37 2 98435156 98435156 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 2 98435156 98435156 G T SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.1103 p.A368D 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 tier1 - - 66 0 0.00 60 4 6.25 TNFRSF1B 0 genome.wustl.edu 37 1 12268239 12268239 + RNA SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 12268239 12268239 C T SNP TNFRSF1B ENST00000492361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TNFRSF1B HGNC ENSG00000028137 tier1 - - 21 0 0.00 9 7 43.75 TNKS2 0 genome.wustl.edu 37 10 93576936 93576936 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 10 93576936 93576936 G T SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.470 p.G157V 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 46 0 0.00 37 2 5.00 TOR3A 0 genome.wustl.edu 37 1 179057075 179057075 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 179057075 179057075 G T SNP TOR3A ENST00000367627 human ensembl 74_37 +1 known silent c.669 p.T223 0.364 pfam_Torsin,superfamily_P-loop_NTPase pfam_Torsin,superfamily_P-loop_NTPase - no_errors TOR3A HGNC ENSG00000186283 62 0 0.00 76 4 5.00 TP53 0 genome.wustl.edu 37 17 7577115 7577115 + Frame_Shift_Del DEL A A - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 7577115 7577115 A - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.823 p.C275fs 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 40 0 0.00 8 8 50.00 TP53 0 genome.wustl.edu 37 17 7578407 7578407 + Missense_Mutation SNP G G C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 7578407 7578407 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.523 p.R175G 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs138729528 - 41 0 0.00 13 8 38.10 TRIM36 0 genome.wustl.edu 37 5 114477023 114477023 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 5 114477023 114477023 C T SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.820 p.V274M 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 56 0 0.00 24 2 7.69 TRMT13 0 genome.wustl.edu 37 1 100598836 100598836 + Frame_Shift_Del DEL A A - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 100598836 100598836 A - DEL TRMT13 ENST00000370141 human ensembl 74_37 +1 known frame_shift_del c.112 p.R39fs 0.971 pfam_Znf_CCCH-type_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 tier1 36 0 0.00 24 2 7.69 TRPM6 0 genome.wustl.edu 37 9 77416992 77416992 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 77416992 77416992 G T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.1831 p.L611M 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 37 0 0.00 41 4 8.89 TTC39B 0 genome.wustl.edu 37 9 15211356 15211356 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 15211356 15211356 G T SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known silent c.522 p.T174 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 tier1 - - 47 0 0.00 29 5 14.71 TTK 0 genome.wustl.edu 37 6 80749463 80749463 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 80749463 80749463 G T SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2181 p.M727I 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 TTK HGNC ENSG00000112742 tier1 - - 98 0 0.00 25 13 34.21 TTN 0 genome.wustl.edu 37 2 179425882 179425882 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 2 179425882 179425882 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.77273 p.R25758Q 0.997 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 rs200843338 - 37 0 0.00 12 17 58.62 UHRF1BP1 0 genome.wustl.edu 37 6 34826288 34826288 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 34826288 34826288 G T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.2155 p.V719L 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 50 0 0.00 45 3 6.25 UNKL 0 genome.wustl.edu 37 16 1433666 1433666 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 16 1433666 1433666 C T SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.2129 p.R710Q 0.003 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 - - 61 0 0.00 51 31 37.80 USP17L2 0 genome.wustl.edu 37 8 11995473 11995473 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 8 11995473 11995473 G T SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.797 p.T266K 0.005 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 130 0 0.00 36 3 7.69 USP48 0 genome.wustl.edu 37 1 22074729 22074729 + Silent SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 1 22074729 22074729 G A SNP USP48 ENST00000308271 human ensembl 74_37 -1 known silent c.810 p.C270 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 - - 57 0 0.00 60 4 6.25 VPS13B 0 genome.wustl.edu 37 8 100533161 100533161 + Missense_Mutation SNP G G C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 8 100533161 100533161 G C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.4743 p.L1581F 0.984 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 93 0 0.00 16 31 65.96 WASH3P 0 genome.wustl.edu 37 15 102506815 102506816 + RNA DEL CC CC - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 15 102506815 102506816 CC - DEL WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 9 0 0.00 9 4 30.77 WDR75 0 genome.wustl.edu 37 2 190320168 190320168 + Nonsense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 2 190320168 190320168 G T SNP WDR75 ENST00000314761 human ensembl 74_37 +1 known nonsense c.496 p.E166* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 tier1 - - 135 0 0.00 136 27 16.56 WDR81 0 genome.wustl.edu 37 17 1629539 1629539 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 17 1629539 1629539 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.1286 p.A429V 0.002 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 25 0 0.00 15 2 11.76 WFDC8 0 genome.wustl.edu 37 20 44184456 44184456 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 20 44184456 44184456 C T SNP WFDC8 ENST00000289953 human ensembl 74_37 -1 known missense c.329 p.R110H 0.010 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_WAP-type_4-diS_core,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,prints_WAP-type_4-diS_core - no_errors WFDC8 HGNC ENSG00000158901 tier1 - - 80 0 0.00 35 21 37.50 WWC3 0 genome.wustl.edu 37 X 10035344 10035344 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 X 10035344 10035344 G T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.34 p.D12Y 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 tier1 - - 57 0 0.00 63 4 5.97 ZBTB49 0 genome.wustl.edu 37 4 4317368 4317368 + Nonsense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 4 4317368 4317368 C T SNP ZBTB49 ENST00000515012 human ensembl 74_37 +1 known nonsense c.1261 p.Q421* 1.000 pfscan_Znf_C2H2 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 ZBTB49 HGNC ENSG00000168826 tier1 - - 51 0 0.00 58 4 6.45 ZCWPW1 0 genome.wustl.edu 37 7 99998790 99998790 + Missense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 99998790 99998790 C A SNP ZCWPW1 ENST00000398027 human ensembl 74_37 -1 known missense c.1794 p.E598D 0.001 NULL pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 52 0 0.00 74 4 5.13 ZKSCAN3 0 genome.wustl.edu 37 6 28333434 28333434 + Missense_Mutation SNP G G C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 6 28333434 28333434 G C SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known missense c.989 p.S330T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 tier1 - - 81 0 0.00 35 24 40.68 ZNF22 0 genome.wustl.edu 37 10 45498900 45498900 + Silent SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 10 45498900 45498900 G T SNP ZNF22 ENST00000298299 human ensembl 74_37 +1 known silent c.84 p.R28 0.679 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF22 HGNC ENSG00000165512 55 0 0.00 23 2 8.00 ZNF415 0 genome.wustl.edu 37 19 53611721 53611721 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 53611721 53611721 C T SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known missense c.1721 p.C574Y 0.632 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 193 0 0.00 63 21 24.71 ZNF425 0 genome.wustl.edu 37 7 148802388 148802388 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 148802388 148802388 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.575 p.C192Y 0.564 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 52 0 0.00 23 2 8.00 ZNF462 0 genome.wustl.edu 37 9 109687209 109687209 + Nonsense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 9 109687209 109687209 C A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known nonsense c.1016 p.S339* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 38 0 0.00 26 2 7.14 ZNF562 0 genome.wustl.edu 37 19 9771405 9771405 + Missense_Mutation SNP T T C TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 9771405 9771405 T C SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.16 p.M6V 0.000 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 ZNF562 HGNC ENSG00000171466 tier1 - - 73 0 0.00 30 9 23.08 ZNF569 0 genome.wustl.edu 37 19 37904475 37904475 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 37904475 37904475 G T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1085 p.A362D 0.946 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 ZNF569 HGNC ENSG00000196437 77 0 0.00 35 4 10.26 ZNF614 0 genome.wustl.edu 37 19 52520064 52520064 + Nonsense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 52520064 52520064 C A SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known nonsense c.787 p.E263* 0.010 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 ZNF614 HGNC ENSG00000142556 34 0 0.00 46 3 6.12 ZNF716 0 genome.wustl.edu 37 7 57529387 57529387 + Missense_Mutation SNP C C A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 7 57529387 57529387 C A SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.1220 p.P407H 0.996 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 ZNF716 HGNC ENSG00000182111 tier1 - - 62 0 0.00 47 7 12.96 ZNF772 0 genome.wustl.edu 37 19 57984884 57984884 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99b4a355-38c5-453d-8af7-596281e04b52 eb9962d2-a032-4cc8-b4b9-8f581df3df66 19 57984884 57984884 C T SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.1228 p.A410T 0.498 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 ZNF772 HGNC ENSG00000197128 68 0 0.00 37 2 5.13