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 ABCB11 0 genome.wustl.edu 37 2 169850332 169850332 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 169850332 169850332 C T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.672 p.M224I 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 tier1 - - 98 0 0.00 39 35 47.30 AGBL2 0 genome.wustl.edu 37 11 47727462 47727462 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 47727462 47727462 G C SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.240 p.I80M 0.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 tier1 - - 151 0 0.00 105 51 32.69 AQP4-AS1 0 genome.wustl.edu 37 18 24513645 24513645 + RNA SNP T T A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 18 24513645 24513645 T A SNP AQP4-AS1 ENST00000568797 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors AQP4-AS1 HGNC ENSG00000260372 tier1 - - 33 0 0.00 20 7 25.93 ARHGEF3 0 genome.wustl.edu 37 3 56763546 56763546 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 3 56763546 56763546 G T SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known missense c.1429 p.R477S 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 45 0 0.00 29 2 6.45 ASXL3 0 genome.wustl.edu 37 18 31326180 31326180 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 18 31326180 31326180 C G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.6368 p.S2123C 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 81 0 0.00 44 20 31.25 BAZ2A 0 genome.wustl.edu 37 12 57003984 57003984 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 57003984 57003984 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.1801 p.V601M 0.036 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 85 0 0.00 18 39 68.42 BCL7C 0 genome.wustl.edu 37 16 30903911 30903911 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 16 30903911 30903911 C T SNP BCL7C ENST00000574418 human ensembl 74_37 -1 known missense c.296 p.R99K 1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 tier1 - - 37 0 0.00 33 10 22.73 BET1L 0 genome.wustl.edu 37 11 180257 180257 + Missense_Mutation SNP T T C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 180257 180257 T C SNP BET1L ENST00000410108 human ensembl 74_37 -1 putative missense c.316 p.T106A 0.010 NULL pfscan_T_SNARE_dom - no_errors BET1L HGNC ENSG00000177951 tier1 rs199807399 - 43 0 0.00 6 5 45.45 BRAP 0 genome.wustl.edu 37 12 112123540 112123540 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 112123540 112123540 G A SNP BRAP ENST00000419234 human ensembl 74_37 -1 known silent c.57 p.P19 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 tier1 - - 36 0 0.00 25 19 43.18 BRIX1 0 genome.wustl.edu 37 5 34918517 34918517 + Missense_Mutation SNP A A T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 5 34918517 34918517 A T SNP BRIX1 ENST00000336767 human ensembl 74_37 +1 known missense c.208 p.I70L 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC ENSG00000113460 tier1 - - 160 0 0.00 103 198 65.78 BSN 0 genome.wustl.edu 37 3 49700504 49700504 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 3 49700504 49700504 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.10913 p.R3638H 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 rs147167809 - 42 0 0.00 19 18 48.65 C3orf72 0 genome.wustl.edu 37 3 138669212 138669212 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 3 138669212 138669212 C T SNP C3orf72 ENST00000383165 human ensembl 74_37 +1 known missense c.326 p.S109L 0.000 NULL NULL - no_errors C3orf72 HGNC ENSG00000206262 tier1 - - 19 0 0.00 14 27 65.85 C5orf47 0 genome.wustl.edu 37 5 173426803 173426803 + Splice_Site SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 5 173426803 173426803 G T SNP C5orf47 ENST00000340147 human ensembl 74_37 +1 known splice_site c.511+1 e3+1 0.998 - - - no_errors C5orf47 HGNC ENSG00000185056 64 0 0.00 41 3 6.82 CATSPER1 0 genome.wustl.edu 37 11 65793409 65793409 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 65793409 65793409 G C SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.442 p.H148D 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 tier1 - - 52 0 0.00 36 22 37.93 CCDC146 0 genome.wustl.edu 37 7 76908384 76908384 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 76908384 76908384 G C SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.1660 p.E554Q 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 tier1 - - 150 0 0.00 73 53 42.06 CCDC88B 0 genome.wustl.edu 37 11 64108393 64108393 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 64108393 64108393 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.221 p.R74Q 0.998 pfam_Hook-related_fam pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 91 0 0.00 49 47 48.96 CD4 0 genome.wustl.edu 37 12 6909240 6909240 + RNA SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 6909240 6909240 C G SNP CD4 ENST00000535466 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD4 HGNC ENSG00000010610 tier1 - - 92 0 0.00 36 46 55.42 CDC37L1 0 genome.wustl.edu 37 9 4685165 4685165 + RNA SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 4685165 4685165 G T SNP CDC37L1 ENST00000479095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDC37L1 HGNC ENSG00000106993 tier1 - - 117 0 0.00 66 4 5.71 CDCA2 0 genome.wustl.edu 37 8 25340994 25340994 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 8 25340994 25340994 A G SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.1112 p.K371R 0.090 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 tier1 - - 173 0 0.00 38 71 65.14 CDH10 0 genome.wustl.edu 37 5 24509822 24509822 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 5 24509822 24509822 A G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1109 p.I370T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 90 0 0.00 112 27 19.42 CEACAM18 0 genome.wustl.edu 37 19 51983739 51983739 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 51983739 51983739 G A SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known missense c.388 p.A130T 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 94 0 0.00 68 35 33.98 CELSR2 0 genome.wustl.edu 37 1 109793875 109793875 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 109793875 109793875 G T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1174 p.D392Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 100 0 0.00 50 3 5.66 CEP164 0 genome.wustl.edu 37 11 117282842 117282842 + Silent SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 117282842 117282842 G T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.4341 p.L1447 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 tier1 - - 44 0 0.00 59 4 6.35 CHMP5 0 genome.wustl.edu 37 9 33266059 33266059 + Nonsense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 33266059 33266059 G T SNP CHMP5 ENST00000223500 human ensembl 74_37 +1 known nonsense c.121 p.E41* 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP5 HGNC ENSG00000086065 tier1 - - 55 0 0.00 41 4 8.89 CHRM3 0 genome.wustl.edu 37 1 240072316 240072316 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 240072316 240072316 C G SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.1565 p.P522R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 73 0 0.00 63 34 35.05 CLK2 0 genome.wustl.edu 37 1 155239248 155239248 + RNA SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 155239248 155239248 G A SNP CLK2 ENST00000484699 human ensembl 74_37 -1 known rna NULL NULL 0.520 - - - no_errors CLK2 HGNC ENSG00000176444 tier1 - - 35 0 0.00 38 24 38.10 CLTCL1 0 genome.wustl.edu 37 22 19210297 19210297 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 22 19210297 19210297 G A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known silent c.2328 p.I776 0.911 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 tier1 - - 84 0 0.00 65 4 5.80 CNN3 0 genome.wustl.edu 37 1 95367275 95367275 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 95367275 95367275 G A SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known missense c.451 p.R151C 1.000 superfamily_CH-domain pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 66 0 0.00 35 2 5.41 COL18A1 0 genome.wustl.edu 37 21 46888269 46888269 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 21 46888269 46888269 G T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.1465 p.A489S 0.968 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 91 0 0.00 62 4 6.06 COL28A1 0 genome.wustl.edu 37 7 7413142 7413142 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 7413142 7413142 G T SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.2395 p.L799M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 51 0 0.00 24 3 11.11 CRYBA4 0 genome.wustl.edu 37 22 27026481 27026481 + RNA SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 22 27026481 27026481 G A SNP CRYBA4 ENST00000466315 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYBA4 HGNC ENSG00000196431 tier1 - - 51 0 0.00 38 13 25.49 CTNND1 0 genome.wustl.edu 37 11 57564314 57564314 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 57564314 57564314 G C SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.806 p.S269T 0.986 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 90 0 0.00 43 37 46.25 CYP2E1 0 genome.wustl.edu 37 10 135351256 135351256 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 10 135351256 135351256 G A SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.1157 p.G386D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 tier1 - - 93 0 0.00 49 4 7.55 DCC 0 genome.wustl.edu 37 18 50923684 50923684 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 18 50923684 50923684 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2695 p.D899N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 tier1 - - 104 0 0.00 78 19 19.59 DDX50 0 genome.wustl.edu 37 10 70700818 70700818 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 10 70700818 70700818 G A SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known silent c.1758 p.G586 0.715 pfam_GUCT pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 tier1 - - 92 0 0.00 25 38 60.32 DGCR6L 0 genome.wustl.edu 37 22 20307414 20307414 + Missense_Mutation SNP T T C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 22 20307414 20307414 T C SNP DGCR6L ENST00000248879 human ensembl 74_37 -1 known missense c.98 p.K33R 1.000 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6L HGNC ENSG00000128185 tier1 - - 49 0 0.00 29 27 48.21 DIAPH2 0 genome.wustl.edu 37 X 96684668 96684668 + Silent SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f X 96684668 96684668 G T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known silent c.3165 p.V1055 1.000 pfam_Drf_DAD,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 75 0 0.00 71 4 5.33 DIS3 0 genome.wustl.edu 37 13 73333933 73333933 + Nonstop_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 13 73333933 73333933 C A SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known nonstop c.2877 p.*959Y 0.995 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 tier1 - - 38 0 0.00 12 11 47.83 DMTN 0 genome.wustl.edu 37 8 21925182 21925182 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 8 21925182 21925182 C T SNP DMTN ENST00000265800 human ensembl 74_37 +1 known missense c.238 p.R80C 0.997 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 tier1 - - 44 0 0.00 4 12 75.00 DNM1P47 0 genome.wustl.edu 37 15 102297905 102297905 + RNA SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 15 102297905 102297905 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.876 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 34 0 0.00 11 23 67.65 DOCK3 0 genome.wustl.edu 37 3 51312516 51312516 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 3 51312516 51312516 G T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2555 p.R852L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 73 0 0.00 36 2 5.26 DPPA4 0 genome.wustl.edu 37 3 109046719 109046719 + RNA SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 3 109046719 109046719 C T SNP DPPA4 ENST00000463966 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPPA4 HGNC ENSG00000121570 tier1 - - 43 0 0.00 26 7 21.21 DPYS 0 genome.wustl.edu 37 8 105405213 105405213 + Silent SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 8 105405213 105405213 G T SNP DPYS ENST00000351513 human ensembl 74_37 -1 known silent c.1242 p.I414 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 tier1 - - 67 0 0.00 45 5 10.00 DTX1 0 genome.wustl.edu 37 12 113515631 113515631 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 113515631 113515631 C G SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.662 p.S221W 1.000 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 tier1 - - 9 0 0.00 4 4 50.00 DUOX1 0 genome.wustl.edu 37 15 45444575 45444575 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 15 45444575 45444575 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.3285 p.F1095 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 101 0 0.00 50 41 45.05 DYNC1I2 0 genome.wustl.edu 37 2 172584836 172584836 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 172584836 172584836 G T SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known missense c.1165 p.V389F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 34 0 0.00 33 4 10.81 E2F1 0 genome.wustl.edu 37 20 32264556 32264556 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 32264556 32264556 G A SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known silent c.1296 p.L432 0.995 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 tier1 - - 153 0 0.00 87 62 41.61 E2F1 0 genome.wustl.edu 37 20 32264679 32264679 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 32264679 32264679 G C SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known missense c.1173 p.F391L 0.957 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 tier1 - - 52 0 0.00 36 33 47.83 EBF4 0 genome.wustl.edu 37 20 2686231 2686231 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 2686231 2686231 G T SNP EBF4 ENST00000380648 human ensembl 74_37 +1 known missense c.134 p.G45V 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF4 HGNC ENSG00000088881 48 0 0.00 33 3 8.33 EEF1G 0 genome.wustl.edu 37 11 62327763 62327763 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 62327763 62327763 G C SNP EEF1G ENST00000378019 human ensembl 74_37 -1 known missense c.1171 p.L391V 1.000 pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 tier1 - - 73 0 0.00 65 12 15.58 EMC10 0 genome.wustl.edu 37 19 50985908 50985908 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 50985908 50985908 C G SNP EMC10 ENST00000598585 human ensembl 74_37 +1 putative missense c.1039 p.H347D 0.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 tier1 - - 54 0 0.00 23 23 50.00 ENSG00000188474 0 genome.wustl.edu 37 19 12223836 12223836 + Missense_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 12223836 12223836 C A SNP ENSG00000188474 ENST00000339302 human ensembl 74_37 +1 known missense c.1474 p.H492N 0.986 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_gn ENSG00000188474 tier1 - - 99 0 0.00 73 5 6.41 ENSG00000215863 0 genome.wustl.edu 37 1 147851031 147851032 + RNA INS - - AA TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 147851031 147851032 0 AA INS ENSG00000215863 ENST00000381475 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-495P10.2 Clone_based_vega_gene ENSG00000215863 10 0 0.00 5 2 28.57 ENSG00000231933 0 genome.wustl.edu 37 22 26290962 26290962 + RNA SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 22 26290962 26290962 G A SNP ENSG00000231933 ENST00000599792 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-125H2.2 Clone_based_vega_gene ENSG00000231933 tier1 - - 10 0 0.00 6 6 50.00 ENSG00000252176 0 genome.wustl.edu 37 8 39418485 39418485 + RNA SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 8 39418485 39418485 A G SNP ENSG00000252176 ENST00000516367 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC123767.1 Clone_based_ensembl_gene ENSG00000252176 tier1 - - 29 0 0.00 14 5 26.32 ENSG00000258457 0 genome.wustl.edu 37 14 23467395 23467395 + RNA SNP A A C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 14 23467395 23467395 A C SNP ENSG00000258457 ENST00000555294 human ensembl 74_37 +1 known rna NULL NULL 0.198 - - - no_errors RP11-298I3.4 Clone_based_vega_gene ENSG00000258457 tier1 - - 9 0 0.00 8 4 33.33 ENSG00000261008 0 genome.wustl.edu 37 16 72460388 72460388 + RNA DEL A A - TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 16 72460388 72460388 A - DEL ENSG00000261008 ENST00000561611 human ensembl 74_37 -1 known rna NULL NULL 0.967 - - - no_errors AC004158.2 Clone_based_vega_gene ENSG00000261008 tier1 20 0 0.00 11 2 15.38 EPAS1 0 genome.wustl.edu 37 2 46587838 46587838 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 46587838 46587838 G A SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.516 p.M172I 1.000 superfamily_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 tier1 - - 46 0 0.00 37 15 28.85 EPPK1 0 genome.wustl.edu 37 8 144940622 144940622 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 8 144940622 144940622 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.6800 p.A2267V 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 70 0 0.00 94 18 15.38 ESRP2 0 genome.wustl.edu 37 16 68265264 68265264 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 16 68265264 68265264 C T SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known missense c.1558 p.D520N 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 tier1 - - 49 0 0.00 34 28 45.16 FAM78A 0 genome.wustl.edu 37 9 134151335 134151335 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 134151335 134151335 G A SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known missense c.232 p.P78S 1.000 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 tier1 - - 67 0 0.00 66 4 5.63 FERMT3 0 genome.wustl.edu 37 11 63978612 63978612 + Silent SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 63978612 63978612 C G SNP FERMT3 ENST00000279227 human ensembl 74_37 +1 known silent c.483 p.L161 0.981 smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 23 0 0.00 19 3 13.64 FRG1B 0 genome.wustl.edu 37 20 29631557 29631557 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 29631557 29631557 A G SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.353 p.K118R 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 47 0 0.00 55 4 6.78 GGA3 0 genome.wustl.edu 37 17 73240711 73240711 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 17 73240711 73240711 C T SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.289 p.V97I 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 tier1 - - 111 0 0.00 24 44 64.71 GOLGA8T 0 genome.wustl.edu 37 15 30429105 30429105 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 15 30429105 30429105 C T SNP GOLGA8T ENST00000569052 human ensembl 74_37 +1 novel missense c.85 p.P29S 0.190 NULL NULL - no_errors GOLGA8T HGNC ENSG00000261247 tier1 - - 38 0 0.00 36 9 20.00 GPATCH1 0 genome.wustl.edu 37 19 33609992 33609992 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 33609992 33609992 C T SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known silent c.2490 p.F830 0.996 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 tier1 - - 38 0 0.00 25 13 34.21 GTF3C3 0 genome.wustl.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 197657782 197657782 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known silent c.309 p.E103 0.968 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 40 0 0.00 35 3 7.89 HDAC7 0 genome.wustl.edu 37 12 48189393 48189393 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 48189393 48189393 C T SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.1115 p.G372D 0.017 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 tier1 - - 121 0 0.00 59 4 6.35 HIST1H3G 0 genome.wustl.edu 37 6 26271357 26271357 + Nonsense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 6 26271357 26271357 G A SNP HIST1H3G ENST00000305910 human ensembl 74_37 -1 known nonsense c.256 p.Q86* 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 tier1 - - 111 0 0.00 79 53 40.15 HIVEP1 0 genome.wustl.edu 37 6 12164527 12164527 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 6 12164527 12164527 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.7990 p.L2664 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 30 0 0.00 19 8 29.63 HNRNPLL 0 genome.wustl.edu 37 2 38796385 38796385 + Missense_Mutation SNP T T A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 38796385 38796385 T A SNP HNRNPLL ENST00000449105 human ensembl 74_37 -1 known missense c.1306 p.N436Y 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPLL HGNC ENSG00000143889 tier1 - - 45 0 0.00 34 22 39.29 IRGQ 0 genome.wustl.edu 37 19 44096738 44096738 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 44096738 44096738 C T SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known missense c.1312 p.G438R 0.290 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 tier1 - - 16 0 0.00 15 7 31.82 ITSN1 0 genome.wustl.edu 37 21 35257404 35257404 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 21 35257404 35257404 A G SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.4736 p.K1579R 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 61 0 0.00 50 3 5.66 KIAA1009 0 genome.wustl.edu 37 6 84872950 84872950 + Missense_Mutation SNP T T G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 6 84872950 84872950 T G SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.2425 p.K809Q 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 tier1 - - 130 0 0.00 84 9 9.57 KIAA2018 0 genome.wustl.edu 37 3 113379264 113379264 + Missense_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 3 113379264 113379264 C A SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.1265 p.R422L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 65 0 0.00 17 25 59.52 KLK15 0 genome.wustl.edu 37 19 51330300 51330300 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 51330300 51330300 G A SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known silent c.315 p.N105 0.449 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 tier1 - - 55 0 0.00 30 14 31.82 KMT2D 0 genome.wustl.edu 37 12 49427679 49427679 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 49427679 49427679 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.10809 p.Q3603 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 51 0 0.00 30 2 6.25 KRTAP20-1 0 genome.wustl.edu 37 21 31988818 31988818 + Silent SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 21 31988818 31988818 G T SNP KRTAP20-1 ENST00000334664 human ensembl 74_37 +1 known silent c.45 p.G15 0.880 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP20-1 HGNC ENSG00000244624 tier1 - - 191 0 0.00 45 97 68.31 LGR6 0 genome.wustl.edu 37 1 202245493 202245493 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 202245493 202245493 C T SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.488 p.S163F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 tier1 - - 32 0 0.00 45 18 28.57 LOC101927209 0 genome.wustl.edu 37 1 142690883 142690883 + RNA SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 142690883 142690883 G A SNP LOC101927209 ENST00000446205 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-417J8.3 Clone_based_vega_gene ENSG00000230880 tier1 - - 11 0 0.00 1 9 90.00 LOC101927599 0 genome.wustl.edu 37 19 37068396 37068397 + RNA INS - - T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 37068396 37068397 - T INS LOC101927599 ENST00000448373 human ensembl 74_37 +1 known rna NULL NULL 0.110:0.124 - - - no_errors AC092295.7 Clone_based_vega_gene ENSG00000233527 tier1 10 0 0.00 11 3 21.43 LOC101927599 0 genome.wustl.edu 37 19 37068397 37068397 + RNA DEL T T - TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 37068397 37068397 T - DEL LOC101927599 ENST00000448373 human ensembl 74_37 +1 known rna NULL NULL 0.124 - - - no_errors AC092295.7 Clone_based_vega_gene ENSG00000233527 tier1 11 0 0.00 11 4 26.67 LOC728715 0 genome.wustl.edu 37 12 9727444 9727444 + RNA SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 9727444 9727444 G T SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 106 0 0.00 18 3 14.29 LPPR3 0 genome.wustl.edu 37 19 815759 815759 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 815759 815759 G T SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known missense c.168 p.D56E 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 74 0 0.00 70 4 5.41 LRFN5 0 genome.wustl.edu 37 14 42356585 42356585 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 14 42356585 42356585 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.757 p.R253C 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 86 0 0.00 69 4 5.48 LRTOMT 0 genome.wustl.edu 37 11 71806129 71806129 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 71806129 71806129 G C SNP LRTOMT ENST00000307198 human ensembl 74_37 +1 known missense c.21 p.K7N 1.000 NULL pfam_O-MeTrfase_3 - no_errors LRTOMT HGNC ENSG00000184154 tier1 - - 60 0 0.00 47 10 17.54 LTBP4 0 genome.wustl.edu 37 19 41111350 41111350 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 41111350 41111350 A G SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.683 p.Q228R 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 151 0 0.00 67 39 36.79 MAML3 0 genome.wustl.edu 37 4 140811078 140811078 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 4 140811078 140811078 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1512 p.Q504 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 48 0 0.00 33 2 5.71 MGAM 0 genome.wustl.edu 37 7 141708393 141708393 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 141708393 141708393 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.215 p.T72I 0.008 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 129 0 0.00 96 59 38.06 MORC3 0 genome.wustl.edu 37 21 37709264 37709264 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 21 37709264 37709264 G T SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.205 p.G69W 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 - - 133 0 0.00 70 4 5.41 MTG2 0 genome.wustl.edu 37 20 60775767 60775767 + Silent SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 60775767 60775767 C A SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known silent c.855 p.G285 0.161 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 tier1 - - 43 0 0.00 25 23 47.92 MUC16 0 genome.wustl.edu 37 19 9064876 9064876 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 9064876 9064876 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.22570 p.P7524T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 154 0 0.00 149 13 7.98 MYEOV 0 genome.wustl.edu 37 11 69063218 69063218 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 69063218 69063218 G T SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known missense c.301 p.A101S 0.001 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 68 0 0.00 45 4 7.84 MYO6 0 genome.wustl.edu 37 6 76591508 76591508 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 6 76591508 76591508 C G SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.2389 p.Q797E 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 118 0 0.00 44 35 44.30 MYO9B 0 genome.wustl.edu 37 19 17264847 17264847 + Nonsense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 17264847 17264847 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known nonsense c.1069 p.Q357* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 tier1 - - 63 0 0.00 63 4 5.97 NBPF12 0 genome.wustl.edu 37 1 146398500 146398500 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 146398500 146398500 C T SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known silent c.486 p.L162 0.041 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 tier1 - - 338 0 0.00 221 146 39.67 NFE2L2 0 genome.wustl.edu 37 2 178098953 178098953 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 178098953 178098953 C G SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.92 p.G31A 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 56 0 0.00 24 22 47.83 NOP9 0 genome.wustl.edu 37 14 24771499 24771499 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 14 24771499 24771499 G A SNP NOP9 ENST00000267425 human ensembl 74_37 +1 known missense c.1012 p.V338M 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 tier1 - - 87 0 0.00 39 36 48.00 NOVA2 0 genome.wustl.edu 37 19 46443970 46443970 + Silent SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 46443970 46443970 G C SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known silent c.630 p.L210 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 tier1 - - 52 0 0.00 42 20 32.26 NRD1 0 genome.wustl.edu 37 1 52279933 52279933 + RNA SNP T T A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 52279933 52279933 T A SNP NRD1 ENST00000483007 human ensembl 74_37 -1 known rna NULL NULL 0.896 - - - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 11 0 0.00 6 4 40.00 NUP188 0 genome.wustl.edu 37 9 131768007 131768007 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 131768007 131768007 C T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.4821 p.F1607 0.097 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 112 0 0.00 48 39 44.83 OMA1 0 genome.wustl.edu 37 1 59004813 59004813 + Nonsense_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 59004813 59004813 C A SNP OMA1 ENST00000371226 human ensembl 74_37 -1 known nonsense c.154 p.G52* 0.044 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 tier1 - - 48 0 0.00 9 31 77.50 OR13C3 0 genome.wustl.edu 37 9 107298339 107298339 + Silent SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 107298339 107298339 G C SNP OR13C3 ENST00000374781 human ensembl 74_37 -1 known silent c.756 p.L252 0.072 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC ENSG00000204246 tier1 - - 65 0 0.00 55 26 32.10 OR1B1 0 genome.wustl.edu 37 9 125391770 125391770 + Missense_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 125391770 125391770 C A SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.45 p.L15F 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 55 0 0.00 57 4 6.56 OR2AT4 0 genome.wustl.edu 37 11 74800003 74800003 + Silent SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 74800003 74800003 G T SNP OR2AT4 ENST00000305159 human ensembl 74_37 -1 known silent c.756 p.V252 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 tier1 - - 46 0 0.00 45 18 28.57 ORC2 0 genome.wustl.edu 37 2 201790582 201790582 + Missense_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 201790582 201790582 C A SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known missense c.1124 p.W375L 0.999 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 49 0 0.00 34 2 5.56 OSBPL5 0 genome.wustl.edu 37 11 3150332 3150332 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 3150332 3150332 G T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.47 p.P16H 0.116 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 tier1 - - 75 0 0.00 69 4 5.48 PCDH11X 0 genome.wustl.edu 37 X 91518126 91518126 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f X 91518126 91518126 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3128 p.G1043E 0.243 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 138 0 0.00 35 97 73.48 PHKA1 0 genome.wustl.edu 37 X 71876026 71876026 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f X 71876026 71876026 G A SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.985 p.P329S 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 35 0 0.00 38 4 9.52 PIGT 0 genome.wustl.edu 37 20 44054363 44054363 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 44054363 44054363 A G SNP PIGT ENST00000279036 human ensembl 74_37 +1 known missense c.1634 p.N545S 1.000 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 tier1 - - 88 0 0.00 62 40 39.22 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 124 0 0.00 164 109 39.93 PIRT 0 genome.wustl.edu 37 17 10728609 10728609 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 17 10728609 10728609 C T SNP PIRT ENST00000580256 human ensembl 74_37 -1 known silent c.354 p.Q118 1.000 NULL NULL - no_errors PIRT HGNC ENSG00000233670 tier1 - - 91 0 0.00 59 28 32.18 PKD1 0 genome.wustl.edu 37 16 2160143 2160143 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 16 2160143 2160143 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.5025 p.A1675 0.050 pfam_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 150 0 0.00 49 72 59.50 PKN2 0 genome.wustl.edu 37 1 89250469 89250469 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 89250469 89250469 G A SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.1133 p.G378E 1.000 superfamily_C2_dom,smart_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 tier1 - - 104 0 0.00 63 8 11.27 PLXNA4 0 genome.wustl.edu 37 7 131908323 131908323 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 131908323 131908323 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2060 p.T687I 0.909 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 88 0 0.00 49 40 44.94 PNMA1 0 genome.wustl.edu 37 14 74179414 74179414 + Missense_Mutation SNP A A T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 14 74179414 74179414 A T SNP PNMA1 ENST00000316836 human ensembl 74_37 -1 known missense c.929 p.L310H 1.000 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 tier1 - - 63 0 0.00 25 35 58.33 POSTN 0 genome.wustl.edu 37 13 38166244 38166244 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 13 38166244 38166244 G C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.276 p.C92W 0.971 superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 100 0 0.00 90 41 31.30 PPP2R5B 0 genome.wustl.edu 37 11 64695604 64695604 + Missense_Mutation SNP T T C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 64695604 64695604 T C SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.565 p.Y189H 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 tier1 - - 110 0 0.00 39 41 51.25 PRKD2 0 genome.wustl.edu 37 19 47197277 47197277 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 47197277 47197277 G A SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known silent c.1431 p.F477 0.953 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 tier1 - - 76 0 0.00 31 27 46.55 PRL 0 genome.wustl.edu 37 6 22287656 22287656 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 6 22287656 22287656 C T SNP PRL ENST00000306482 human ensembl 74_37 -1 known missense c.659 p.R220Q 0.999 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 tier1 - - 72 0 0.00 31 18 36.73 PSD 0 genome.wustl.edu 37 10 104176706 104176706 + Silent SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 10 104176706 104176706 C T SNP PSD ENST00000020673 human ensembl 74_37 -1 known silent c.90 p.P30 0.001 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 tier1 - - 59 0 0.00 30 4 11.76 PTPRZ1 0 genome.wustl.edu 37 7 121650679 121650679 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 121650679 121650679 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1579 p.P527S 0.267 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 76 0 0.00 67 4 5.63 PXMP4 0 genome.wustl.edu 37 20 32307929 32307929 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 32307929 32307929 C T SNP PXMP4 ENST00000409299 human ensembl 74_37 -1 known missense c.85 p.V29M 0.015 pirsf_Pmp4 pirsf_Pmp4 - no_errors PXMP4 HGNC ENSG00000101417 tier1 - - 180 0 0.00 159 88 35.63 RHEB 0 genome.wustl.edu 37 7 151167700 151167700 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 151167700 151167700 G T SNP RHEB ENST00000262187 human ensembl 74_37 -1 known missense c.419 p.S140Y 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEB HGNC ENSG00000106615 55 0 0.00 65 4 5.80 ROCK2 0 genome.wustl.edu 37 2 11332666 11332666 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 11332666 11332666 G A SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.3860 p.P1287L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 tier1 - - 72 0 0.00 57 37 39.36 RPL13AP3 0 genome.wustl.edu 37 14 56233183 56233183 + RNA SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 14 56233183 56233183 C A SNP RPL13AP3 ENST00000494676 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL13AP3 HGNC ENSG00000177350 tier1 - - 83 0 0.00 61 7 10.29 SAMM50 0 genome.wustl.edu 37 22 44372658 44372658 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 22 44372658 44372658 C G SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.806 p.S269C 1.000 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 tier1 - - 102 0 0.00 48 34 41.46 SCN1A 0 genome.wustl.edu 37 2 166900237 166900237 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 166900237 166900237 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1985 p.S662L 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 106 0 0.00 52 51 49.51 SDHA 0 genome.wustl.edu 37 5 233760 233760 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 5 233760 233760 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.1064 p.R355K 1.000 pfam_FAD_bind_dom,superfamily_Succ_DH/fumarate_Rdtase_cat,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 tier1 - - 152 0 0.00 112 170 60.28 SECISBP2 0 genome.wustl.edu 37 9 91940893 91940893 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 91940893 91940893 A G SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.514 p.I172V 0.001 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 tier1 - - 98 0 0.00 22 38 63.33 SF1 0 genome.wustl.edu 37 11 64535684 64535684 + Frame_Shift_Del DEL C C - TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 64535684 64535684 C - DEL SF1 ENST00000377390 human ensembl 74_37 -1 known frame_shift_del c.962 p.G321fs 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 tier1 46 0 0.00 28 3 9.68 SIPA1 0 genome.wustl.edu 37 11 65417519 65417519 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 65417519 65417519 G A SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.2845 p.E949K 1.000 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 tier1 - - 115 0 0.00 81 25 23.36 SIPA1 0 genome.wustl.edu 37 11 65417876 65417876 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 65417876 65417876 G C SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.2908 p.E970Q 0.778 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 tier1 - - 94 0 0.00 72 20 21.74 SLC22A24 0 genome.wustl.edu 37 11 62911100 62911100 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 11 62911100 62911100 A G SNP SLC22A24 ENST00000326192 human ensembl 74_37 -1 known missense c.152 p.V51A 0.950 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 71 0 0.00 65 4 5.71 SLC32A1 0 genome.wustl.edu 37 20 37356902 37356902 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 37356902 37356902 G T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1198 p.A400S 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 58 0 0.00 35 3 7.89 SLC4A5 0 genome.wustl.edu 37 2 74531762 74531762 + Missense_Mutation SNP T T A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 74531762 74531762 T A SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known missense c.125 p.Q42L 0.229 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 tier1 - - 122 0 0.00 81 43 34.68 SON 0 genome.wustl.edu 37 21 34922690 34922690 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 21 34922690 34922690 G T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.1153 p.G385W 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 tier1 - - 102 0 0.00 26 47 64.38 SOX7 0 genome.wustl.edu 37 8 10583327 10583327 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 8 10583327 10583327 G T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.1244 p.T415K 0.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 87 0 0.00 45 3 6.25 SPATA18 0 genome.wustl.edu 37 4 52926601 52926601 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 4 52926601 52926601 A G SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.104 p.Q35R 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 tier1 - - 136 0 0.00 34 45 56.96 SPATA25 0 genome.wustl.edu 37 20 44515296 44515296 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 44515296 44515296 G C SNP SPATA25 ENST00000372519 human ensembl 74_37 -1 known missense c.544 p.Q182E 1.000 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 tier1 - - 71 0 0.00 43 35 44.87 SPATA31C1 0 genome.wustl.edu 37 9 90534190 90534191 + RNA INS - - C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 90534190 90534191 - C INS SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.012:0.016 - - - no_errors SPATA31C1 HGNC ENSG00000230246 tier1 17 0 0.00 13 6 31.58 SRPK3 0 genome.wustl.edu 37 X 153047664 153047664 + Splice_Site SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f X 153047664 153047664 G A SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known splice_site c.475+1 e5+1 1.000 - - - no_errors SRPK3 HGNC ENSG00000184343 53 0 0.00 44 5 10.20 STAT6 0 genome.wustl.edu 37 12 57490895 57490895 + Frame_Shift_Del DEL G G - TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 57490895 57490895 G - DEL STAT6 ENST00000300134 human ensembl 74_37 -1 known frame_shift_del c.2181 p.S728fs 0.002 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 34 0 0.00 24 2 7.69 SUN5 0 genome.wustl.edu 37 20 31584143 31584143 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 20 31584143 31584143 G A SNP SUN5 ENST00000356173 human ensembl 74_37 -1 known silent c.412 p.L138 0.999 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 tier1 - - 93 0 0.00 60 51 45.95 SYT1 0 genome.wustl.edu 37 12 79689885 79689885 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 79689885 79689885 G T SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known missense c.511 p.A171S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 60 0 0.00 31 2 6.06 TBXAS1 0 genome.wustl.edu 37 7 139653225 139653225 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 139653225 139653225 C T SNP TBXAS1 ENST00000416849 human ensembl 74_37 +1 known missense c.650 p.A217V 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 64 0 0.00 50 3 5.66 TECTB 0 genome.wustl.edu 37 10 114063043 114063043 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 10 114063043 114063043 G A SNP TECTB ENST00000369422 human ensembl 74_37 +1 known missense c.963 p.M321I 0.988 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TECTB HGNC ENSG00000119913 tier1 - - 149 0 0.00 42 51 54.84 TMEM182 0 genome.wustl.edu 37 2 103414392 103414392 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 103414392 103414392 C G SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known missense c.402 p.I134M 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 tier1 - - 56 0 0.00 46 30 39.47 TMEM52 0 genome.wustl.edu 37 1 1849758 1849758 + Silent SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 1849758 1849758 G T SNP TMEM52 ENST00000310991 human ensembl 74_37 -1 known silent c.283 p.R95 0.000 NULL NULL - no_errors TMEM52 HGNC ENSG00000178821 64 0 0.00 38 3 7.32 TP53 0 genome.wustl.edu 37 17 7578266 7578266 + Missense_Mutation SNP T T A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 17 7578266 7578266 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.583 p.I195F 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 - - 122 0 0.00 20 105 84.00 TRIP11 0 genome.wustl.edu 37 14 92470509 92470509 + Missense_Mutation SNP T T A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 14 92470509 92470509 T A SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.3811 p.I1271F 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 tier1 - - 78 0 0.00 50 24 32.43 TRMT10A 0 genome.wustl.edu 37 4 100472105 100472105 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 4 100472105 100472105 C T SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.688 p.A230T 1.000 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 tier1 - - 98 0 0.00 54 4 6.90 TWISTNB 0 genome.wustl.edu 37 7 19748587 19748587 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 7 19748587 19748587 G C SNP TWISTNB ENST00000222567 human ensembl 74_37 -1 known missense c.53 p.S18C 0.001 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 tier1 - - 36 0 0.00 24 13 35.14 UNC79 0 genome.wustl.edu 37 14 94004395 94004395 + Missense_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 14 94004395 94004395 C A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1183 p.R395S 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 51 0 0.00 51 11 17.74 USH2A 0 genome.wustl.edu 37 1 215987082 215987082 + Silent SNP T T C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 215987082 215987082 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.9735 p.L3245 0.008 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 155 0 0.00 118 54 31.40 USHBP1 0 genome.wustl.edu 37 19 17373483 17373483 + Missense_Mutation SNP C C A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 17373483 17373483 C A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.520 p.A174S 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 tier1 - - 90 0 0.00 92 13 12.38 UTRN 0 genome.wustl.edu 37 6 144844281 144844281 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 6 144844281 144844281 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.5863 p.A1955T 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 54 0 0.00 38 4 9.52 VANGL2 0 genome.wustl.edu 37 1 160389226 160389226 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 160389226 160389226 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known silent c.627 p.E209 0.995 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 tier1 - - 38 0 0.00 43 16 27.12 VPS13D 0 genome.wustl.edu 37 1 12569367 12569367 + RNA SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 12569367 12569367 G T SNP VPS13D ENST00000496628 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 127 0 0.00 76 5 6.10 WDR81 0 genome.wustl.edu 37 17 1631342 1631342 + Missense_Mutation SNP A A C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 17 1631342 1631342 A C SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.3089 p.E1030A 1.000 NULL 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 31 0 0.00 11 4 26.67 WDR81 0 genome.wustl.edu 37 17 1631343 1631343 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 17 1631343 1631343 G T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.3090 p.E1030D 1.000 NULL 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 32 0 0.00 11 5 31.25 YOD1 0 genome.wustl.edu 37 1 207222508 207222510 + In_Frame_Del DEL CTG CTG - TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 1 207222508 207222510 CTG - DEL YOD1 ENST00000315927 human ensembl 74_37 -1 known in_frame_del c.904_902 p.A301in_frame_del 1.000:0.991:1.000 NULL pfam_OTU,pfscan_OTU - no_errors YOD1 HGNC ENSG00000180667 tier1 53 0 0.00 29 28 49.12 ZAP70 0 genome.wustl.edu 37 2 98340795 98340795 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 98340795 98340795 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.296 p.R99H 1.000 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 16 0 0.00 9 3 25.00 ZFC3H1 0 genome.wustl.edu 37 12 72057336 72057336 + Missense_Mutation SNP C C T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 12 72057336 72057336 C T SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.55 p.E19K 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 - - 55 0 0.00 18 24 57.14 ZFR 0 genome.wustl.edu 37 5 32407029 32407029 + Silent SNP A A T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 5 32407029 32407029 A T SNP ZFR ENST00000265069 human ensembl 74_37 -1 known silent c.882 p.A294 0.601 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 31 0 0.00 55 3 5.17 ZNF385B 0 genome.wustl.edu 37 2 180409561 180409561 + Missense_Mutation SNP A A T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 2 180409561 180409561 A T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.389 p.F130Y 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 tier1 - - 77 0 0.00 53 18 25.35 ZNF618 0 genome.wustl.edu 37 9 116811401 116811401 + Missense_Mutation SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 9 116811401 116811401 G A SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.1819 p.V607M 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 tier1 - - 20 0 0.00 18 9 33.33 ZNF66 0 genome.wustl.edu 37 19 20989009 20989009 + Silent SNP T T C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 20989009 20989009 T C SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known silent c.603 p.Y201 0.022 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 ZNF66 HGNC ENSG00000160229 tier1 - - 122 0 0.00 109 6 5.22 ZNF66 0 genome.wustl.edu 37 19 20989248 20989248 + Missense_Mutation SNP G G C TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 20989248 20989248 G C SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known missense c.842 p.G281A 1.000 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 ZNF66 HGNC ENSG00000160229 tier1 - - 84 0 0.00 64 28 30.43 ZNF785 0 genome.wustl.edu 37 16 30594220 30594220 + Silent SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 16 30594220 30594220 G A SNP ZNF785 ENST00000395216 human ensembl 74_37 -1 known silent c.879 p.F293 0.305 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 ZNF785 HGNC ENSG00000197162 tier1 - - 164 0 0.00 153 14 8.38 ZNF99 0 genome.wustl.edu 37 19 22942112 22942112 + Missense_Mutation SNP A A T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 631fa9c2-1da3-4b45-9c05-e05984c0f207 df052aa8-03bc-4880-935e-147aa04bae2f 19 22942112 22942112 A T SNP ZNF99 ENST00000596209 human ensembl 74_37 -1 novel missense c.599 p.I200N 0.000 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 ZNF99 HGNC ENSG00000213973 tier1 - - 86 0 0.00 44 31 41.33