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 ABCB5 0 genome.wustl.edu 37 7 20768053 20768053 + Nonsense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 7 20768053 20768053 C T SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known nonsense c.1507 p.R503* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 45 0 0.00 21 11 34.38 ADA 0 genome.wustl.edu 37 20 43255195 43255195 + Missense_Mutation SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 20 43255195 43255195 C A SNP ADA ENST00000372874 human ensembl 74_37 -1 known missense c.264 p.E88D 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 58 0 0.00 37 2 5.13 ADAMTSL4 0 genome.wustl.edu 37 1 150529724 150529724 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 150529724 150529724 C T SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.2029 p.P677S 0.510 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 tier1 - - 31 0 0.00 16 6 27.27 ADRA2A 0 genome.wustl.edu 37 10 112837931 112837931 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 112837931 112837931 G T SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.177 p.M59I 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 tier1 - - 61 0 0.00 28 9 24.32 ARHGAP31 0 genome.wustl.edu 37 3 119101244 119101244 + Silent SNP C C G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 119101244 119101244 C G SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.537 p.L179 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 40 0 0.00 28 19 40.43 ARID2 0 genome.wustl.edu 37 12 46230371 46230371 + Splice_Site SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 12 46230371 46230371 G T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known splice_site c.706-1 e7-1 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 54 0 0.00 31 2 5.88 ARRDC2 0 genome.wustl.edu 37 19 18119840 18119840 + Silent SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 18119840 18119840 C A SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known silent c.402 p.T134 0.998 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 tier1 - - 79 0 0.00 31 27 45.76 ATF4 0 genome.wustl.edu 37 22 39917608 39917609 + Frame_Shift_Ins INS - - G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 22 39917608 39917609 - G INS ATF4 ENST00000337304 human ensembl 74_37 +1 known frame_shift_ins c.158_159 p.A54fs 1.000:1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 tier1 33 0 0.00 20 4 16.67 BTN3A3 0 genome.wustl.edu 37 6 26452349 26452349 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 26452349 26452349 G T SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known missense c.1465 p.A489S 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 80 0 0.00 45 3 6.25 C11orf95 0 genome.wustl.edu 37 11 63531137 63531137 + RNA SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 11 63531137 63531137 C A SNP C11orf95 ENST00000433688 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors C11orf95 HGNC ENSG00000188070 tier1 - - 47 0 0.00 21 29 58.00 C1orf87 0 genome.wustl.edu 37 1 60503712 60503712 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 60503712 60503712 G T SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known missense c.815 p.A272E 0.000 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 55 0 0.00 44 4 8.33 CALM3 0 genome.wustl.edu 37 19 47112431 47112431 + RNA SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 47112431 47112431 G A SNP CALM3 ENST00000477244 human ensembl 74_37 +1 known rna NULL NULL 0.793 - - - no_errors CALM3 HGNC ENSG00000160014 tier1 - - 54 0 0.00 43 8 15.69 CASP2 0 genome.wustl.edu 37 7 142997478 142997478 + RNA SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 7 142997478 142997478 A G SNP CASP2 ENST00000493642 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP2 HGNC ENSG00000106144 tier1 - - 48 0 0.00 10 22 68.75 CATSPERG 0 genome.wustl.edu 37 19 38837227 38837227 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 38837227 38837227 G T SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.807 p.K269N 0.002 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 tier1 - - 62 0 0.00 53 4 7.02 CCSER1 0 genome.wustl.edu 37 4 91230145 91230145 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 4 91230145 91230145 G T SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.710 p.R237L 0.026 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 35 0 0.00 20 3 13.04 CDH13 0 genome.wustl.edu 37 16 83711879 83711879 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 16 83711879 83711879 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.1351 p.V451I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 tier1 - - 76 0 0.00 26 9 25.71 CDKN2A 0 genome.wustl.edu 37 9 21994151 21994151 + Frame_Shift_Del DEL A A - TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 9 21994151 21994151 A - DEL CDKN2A ENST00000361570 human ensembl 74_37 -1 known frame_shift_del c.303 p.P102fs 0.976 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 tier1 117 0 0.00 14 2 12.50 CECR2 0 genome.wustl.edu 37 22 18003287 18003287 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 22 18003287 18003287 G T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.1032 p.K344N 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 59 0 0.00 9 19 67.86 CEP192 0 genome.wustl.edu 37 18 13015442 13015442 + Missense_Mutation SNP C C G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 18 13015442 13015442 C G SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.635 p.S212C 0.995 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 tier1 - - 38 0 0.00 8 11 57.89 CHST5 0 genome.wustl.edu 37 16 75563364 75563364 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 16 75563364 75563364 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.937 p.R313C 0.016 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 tier1 - - 46 0 0.00 15 7 31.82 CIRH1A 0 genome.wustl.edu 37 16 69173784 69173785 + Frame_Shift_Ins INS - - T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 16 69173784 69173785 - T INS CIRH1A ENST00000314423 human ensembl 74_37 +1 known frame_shift_ins c.493_494 p.D166fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 tier1 115 0 0.00 33 9 21.43 CLASRP 0 genome.wustl.edu 37 19 45567607 45567609 + In_Frame_Del DEL CTC CTC - TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 45567607 45567609 CTC 0 DEL CLASRP ENST00000221455 human ensembl 74_37 +1 known in_frame_del c.1128_1130 p.S380in_frame_del 1.000:1.000:1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 17 0 0.00 9 2 18.18 CLEC4D 0 genome.wustl.edu 37 12 8673805 8673805 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 12 8673805 8673805 G T SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known missense c.586 p.D196Y 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 28 0 0.00 37 2 5.13 CNOT1 0 genome.wustl.edu 37 16 58615277 58615277 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 16 58615277 58615277 T C SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.1187 p.Y396C 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 88 0 0.00 36 11 23.40 COLGALT1 0 genome.wustl.edu 37 19 17692130 17692130 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 17692130 17692130 C T SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known silent c.1746 p.V582 0.979 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 tier1 - - 42 0 0.00 26 8 23.53 COX6C 0 genome.wustl.edu 37 8 100904210 100904210 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 100904210 100904210 G A SNP COX6C ENST00000297564 human ensembl 74_37 -1 known missense c.40 p.L14F 1.000 pfam_COX6C pfam_COX6C - no_errors COX6C HGNC ENSG00000164919 tier1 - - 10 0 0.00 4 5 55.56 CSF1R 0 genome.wustl.edu 37 5 149449523 149449523 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 5 149449523 149449523 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.1423 p.E475K 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 - - 59 0 0.00 26 8 23.53 DCAF16 0 genome.wustl.edu 37 4 17805701 17805701 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 4 17805701 17805701 T C SNP DCAF16 ENST00000382247 human ensembl 74_37 -1 known missense c.64 p.I22V 0.000 NULL NULL - no_errors DCAF16 HGNC ENSG00000163257 tier1 - - 28 0 0.00 10 13 56.52 DET1 0 genome.wustl.edu 37 15 89074355 89074355 + Silent SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 15 89074355 89074355 A G SNP DET1 ENST00000444300 human ensembl 74_37 -1 known silent c.615 p.H205 0.838 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 tier1 - - 82 0 0.00 37 27 42.19 DPCR1 0 genome.wustl.edu 37 6 30919708 30919708 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 30919708 30919708 A G SNP DPCR1 ENST00000462446 human ensembl 74_37 +1 novel missense c.3467 p.H1156R 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 tier1 - - 31 0 0.00 6 3 33.33 DSE 0 genome.wustl.edu 37 6 116747882 116747882 + Missense_Mutation SNP A A T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 116747882 116747882 A T SNP DSE ENST00000537543 human ensembl 74_37 +1 known missense c.619 p.M207L 1.000 superfamily_Chondroitin_lyas superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 tier1 - - 76 0 0.00 53 12 18.18 ENSG00000271959 0 genome.wustl.edu 37 8 142445540 142445540 + RNA SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 142445540 142445540 T C SNP ENSG00000271959 ENST00000606664 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3064M3.7 Clone_based_vega_gene ENSG00000271959 tier1 rs13262445 - 22 0 0.00 16 5 23.81 ERMP1 0 genome.wustl.edu 37 9 5784880 5784880 + RNA DEL T T - TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 9 5784880 5784880 T - DEL ERMP1 ENST00000214893 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ERMP1 HGNC ENSG00000099219 tier1 11 0 0.00 2 4 66.67 FAM178A 0 genome.wustl.edu 37 10 102672870 102672870 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 102672870 102672870 G T SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 44 0 0.00 25 3 10.71 FAM230B 0 genome.wustl.edu 37 22 21537734 21537734 + RNA SNP A A T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 22 21537734 21537734 A T SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.114 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 69 0 0.00 28 3 9.68 FILIP1 0 genome.wustl.edu 37 6 76024322 76024322 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 76024322 76024322 T C SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.1226 p.K409R 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 78 0 0.00 45 9 16.36 FLG 0 genome.wustl.edu 37 1 152279527 152279527 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 152279527 152279527 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7835 p.D2612G 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs200423945 - 51 0 0.00 26 4 13.33 FOXJ2 0 genome.wustl.edu 37 12 8196342 8196342 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 12 8196342 8196342 A G SNP FOXJ2 ENST00000162391 human ensembl 74_37 +1 known missense c.454 p.R152G 1.000 smart_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 tier1 - - 68 0 0.00 53 44 45.36 FRMD1 0 genome.wustl.edu 37 6 168479699 168479699 + Nonsense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 168479699 168479699 G A SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known nonsense c.76 p.R26* 0.001 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 tier1 - - 77 0 0.00 57 12 17.39 GDI2 0 genome.wustl.edu 37 10 5807199 5807199 + RNA SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 5807199 5807199 T C SNP GDI2 ENST00000479928 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GDI2 HGNC ENSG00000057608 tier1 - - 32 0 0.00 16 5 23.81 GMEB1 0 genome.wustl.edu 37 1 29030774 29030774 + Silent SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 29030774 29030774 G A SNP GMEB1 ENST00000294409 human ensembl 74_37 +1 known silent c.831 p.Q277 0.998 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 tier1 - - 42 0 0.00 11 13 54.17 GRAMD3 0 genome.wustl.edu 37 5 125821384 125821384 + Nonsense_Mutation SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 5 125821384 125821384 C A SNP GRAMD3 ENST00000542322 human ensembl 74_37 +1 known nonsense c.1001 p.S334* 0.997 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC ENSG00000155324 tier1 - - 67 0 0.00 29 33 53.23 GRHL2 0 genome.wustl.edu 37 8 102570742 102570742 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 102570742 102570742 A G SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known missense c.380 p.N127S 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 tier1 - - 38 0 0.00 38 12 23.53 HNF4A 0 genome.wustl.edu 37 20 43058230 43058230 + Silent SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 20 43058230 43058230 G A SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known silent c.1350 p.P450 0.944 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 tier1 - - 108 0 0.00 49 35 41.67 ITFG3 0 genome.wustl.edu 37 16 318798 318798 + Missense_Mutation SNP A A T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 16 318798 318798 A T SNP ITFG3 ENST00000450082 human ensembl 74_37 +1 known missense c.1569 p.R523S 0.001 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 tier1 - - 68 0 0.00 29 16 35.56 JRK 0 genome.wustl.edu 37 8 143746717 143746717 + RNA SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 143746717 143746717 T C SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.041 - - - no_errors JRK HGNC ENSG00000234616 tier1 - - 37 0 0.00 44 18 29.03 KPNA4 0 genome.wustl.edu 37 3 160227638 160227638 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 160227638 160227638 C T SNP KPNA4 ENST00000334256 human ensembl 74_37 -1 known missense c.1159 p.E387K 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA4 HGNC ENSG00000186432 tier1 - - 56 0 0.00 49 10 16.95 LCN1 0 genome.wustl.edu 37 9 138413998 138413998 + Missense_Mutation SNP A A T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 9 138413998 138413998 A T SNP LCN1 ENST00000263598 human ensembl 74_37 +1 known missense c.196 p.N66Y 0.513 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors LCN1 HGNC ENSG00000160349 tier1 - - 107 0 0.00 27 83 75.45 LNX1 0 genome.wustl.edu 37 4 54362373 54362373 + Silent SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 4 54362373 54362373 G T SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known silent c.1167 p.P389 0.001 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 tier1 - - 74 0 0.00 64 4 5.88 LOC100133077 0 genome.wustl.edu 37 9 140777395 140777395 + RNA SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 9 140777395 140777395 C T SNP LOC100133077 ENST00000371390 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-188C12.3 Clone_based_vega_gene ENSG00000203987 tier1 - - 56 0 0.00 33 4 10.81 LOC100294362 0 genome.wustl.edu 37 17 78328011 78328011 + RNA SNP C C G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 78328011 78328011 C G SNP LOC100294362 ENST00000575034 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 tier1 - - 13 0 0.00 3 9 75.00 LOC100507291 0 genome.wustl.edu 37 3 139302147 139302147 + RNA SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 139302147 139302147 T C SNP LOC100507291 ENST00000515247 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-319G6.1 Clone_based_vega_gene ENSG00000248932 tier1 - - 115 0 0.00 69 50 42.02 MAP3K19 0 genome.wustl.edu 37 2 135749143 135749143 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 2 135749143 135749143 C T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known silent c.582 p.S194 0.005 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 40 0 0.00 32 2 5.71 MARK1 0 genome.wustl.edu 37 1 220791724 220791724 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 220791724 220791724 G T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.625 p.V209F 0.983 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 63 0 0.00 34 2 5.56 MAT2B 0 genome.wustl.edu 37 5 162943690 162943690 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 5 162943690 162943690 C T SNP MAT2B ENST00000321757 human ensembl 74_37 +1 known silent c.693 p.C231 1.000 pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 99 0 0.00 48 4 7.69 MBL1P 0 genome.wustl.edu 37 10 81666392 81666392 + RNA SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 81666392 81666392 A G SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 293 0 0.00 257 54 17.36 MFN1 0 genome.wustl.edu 37 3 179069778 179069778 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 179069778 179069778 G A SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.203 p.G68D 0.997 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 85 0 0.00 44 29 39.73 MFSD5 0 genome.wustl.edu 37 12 53647345 53647345 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 12 53647345 53647345 C T SNP MFSD5 ENST00000534842 human ensembl 74_37 +1 known silent c.1047 p.C349 1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 79 0 0.00 42 5 10.64 MGAT3 0 genome.wustl.edu 37 22 39883900 39883900 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 22 39883900 39883900 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.548 p.G183D 0.998 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 tier1 - - 27 0 0.00 17 6 26.09 MIR567 0 genome.wustl.edu 37 3 111831724 111831724 + RNA DEL A A - TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 111831724 111831724 A - DEL MIR567 ENST00000385205 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR567 HGNC ENSG00000207940 tier1 45 0 0.00 41 3 6.82 MIR624 0 genome.wustl.edu 37 14 31483858 31483858 + RNA SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 14 31483858 31483858 G T SNP MIR624 ENST00000385217 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR624 HGNC ENSG00000207952 tier1 - - 94 0 0.00 57 6 9.52 MOG 0 genome.wustl.edu 37 6 29637970 29637970 + Silent SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 29637970 29637970 A G SNP MOG ENST00000494692 human ensembl 74_37 +1 known silent c.612 p.G204 0.000 pirsf_Myelin-oligodendrocyte_glycop pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MOG HGNC ENSG00000204655 tier1 - - 41 0 0.00 21 13 38.24 MORC1 0 genome.wustl.edu 37 3 108723734 108723734 + Missense_Mutation SNP C C G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 108723734 108723734 C G SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.2015 p.R672T 0.009 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 36 0 0.00 23 17 42.50 MPO 0 genome.wustl.edu 37 17 56356572 56356572 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 56356572 56356572 G T SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.778 p.R260S 0.999 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 28 0 0.00 13 3 18.75 MUL1 0 genome.wustl.edu 37 1 20827583 20827583 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 20827583 20827583 T C SNP MUL1 ENST00000264198 human ensembl 74_37 -1 known missense c.659 p.Y220C 1.000 pfam_MULAN pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 tier1 - - 48 0 0.00 19 4 17.39 NCOR2 0 genome.wustl.edu 37 12 124826549 124826549 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 12 124826549 124826549 T C SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.5029 p.I1677V 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 179 0 0.00 39 45 53.57 NEK7 0 genome.wustl.edu 37 1 198288588 198288588 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 198288588 198288588 G T SNP NEK7 ENST00000367385 human ensembl 74_37 +1 known missense c.845 p.R282L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 83 0 0.00 31 2 6.06 NFATC2 0 genome.wustl.edu 37 20 50140465 50140466 + Frame_Shift_Ins INS - - A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 20 50140465 50140466 - A INS NFATC2 ENST00000396009 human ensembl 74_37 -1 known frame_shift_ins c.315_314 p.A106fs 1.000:1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 43 0 0.00 23 8 25.81 NHSL2 0 genome.wustl.edu 37 X 71359229 71359229 + Missense_Mutation SNP C C G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 X 71359229 71359229 C G SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.1831 p.H611D 0.410 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 - - 18 0 0.00 3 17 85.00 NSUN4 0 genome.wustl.edu 37 1 46826379 46826380 + Frame_Shift_Ins INS - - T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 46826379 46826380 - T INS NSUN4 ENST00000474844 human ensembl 74_37 +1 known frame_shift_ins c.757_758 p.V254fs 1.000:1.000 pfam_Fmu/NOL1/Nop2p,prints_RCMT pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN4 HGNC ENSG00000117481 tier1 57 0 0.00 27 7 20.59 NTM 0 genome.wustl.edu 37 11 131530893 131530893 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 11 131530893 131530893 C T SNP NTM ENST00000427481 human ensembl 74_37 +1 known silent c.6 p.N2 0.053 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 tier1 - - 34 0 0.00 11 7 38.89 OR11H4 0 genome.wustl.edu 37 14 20711735 20711735 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 14 20711735 20711735 A G SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known missense c.785 p.Y262C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 tier1 - - 109 0 0.00 21 57 73.08 OR14A16 0 genome.wustl.edu 37 1 247978881 247978881 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 247978881 247978881 G A SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.151 p.H51Y 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 tier1 - - 23 0 0.00 14 5 26.32 OR2A4 0 genome.wustl.edu 37 6 132021790 132021790 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 132021790 132021790 T C SNP OR2A4 ENST00000315453 human ensembl 74_37 -1 known missense c.752 p.Y251C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A4 HGNC ENSG00000180658 tier1 - - 64 0 0.00 20 12 37.50 OR5P3 0 genome.wustl.edu 37 11 7847098 7847098 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 11 7847098 7847098 C T SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known missense c.422 p.C141Y 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 tier1 - - 46 0 0.00 24 3 11.11 OR8A1 0 genome.wustl.edu 37 11 124440069 124440069 + Silent SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 11 124440069 124440069 G T SNP OR8A1 ENST00000284287 human ensembl 74_37 +1 known silent c.105 p.T35 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8A1 HGNC ENSG00000196119 41 0 0.00 27 2 6.90 OR8H3 0 genome.wustl.edu 37 11 55890163 55890163 + Silent SNP C C G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 11 55890163 55890163 C G SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.315 p.V105 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 162 0 0.00 61 29 32.22 PAXBP1 0 genome.wustl.edu 37 21 34110493 34110493 + Frame_Shift_Del DEL T T - TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 21 34110493 34110493 T - DEL PAXBP1 ENST00000331923 human ensembl 74_37 -1 known frame_shift_del c.2472 p.A825fs 1.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 tier1 34 0 0.00 18 2 10.00 PCDH15 0 genome.wustl.edu 37 10 55849756 55849756 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 55849756 55849756 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1985 p.N662S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 39 0 0.00 16 18 52.94 PCDHB3 0 genome.wustl.edu 37 5 140482555 140482555 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 5 140482555 140482555 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.2322 p.F774 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 77 0 0.00 20 38 65.52 PCMTD1 0 genome.wustl.edu 37 8 52733124 52733124 + Silent SNP A A C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 52733124 52733124 A C SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known silent c.861 p.T287 0.566 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 tier1 - - 145 0 0.00 74 8 9.76 PHOSPHO2 0 genome.wustl.edu 37 2 170557861 170557862 + Frame_Shift_Ins INS - - T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 2 170557861 170557862 - T INS PHOSPHO2 ENST00000359744 human ensembl 74_37 +1 known frame_shift_ins c.380_381 p.N129fs 0.815:0.819 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC ENSG00000144362 tier1 37 0 0.00 14 7 33.33 PI16 0 genome.wustl.edu 37 6 36927007 36927007 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 36927007 36927007 C T SNP PI16 ENST00000373674 human ensembl 74_37 +1 known silent c.258 p.G86 0.442 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 tier1 - - 93 0 0.00 30 34 53.12 PIPSL 0 genome.wustl.edu 37 10 95718405 95718405 + RNA SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 95718405 95718405 C T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.063 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 10 0 0.00 4 4 50.00 PKHD1L1 0 genome.wustl.edu 37 8 110376813 110376813 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 110376813 110376813 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.111 p.I37M 0.997 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 81 0 0.00 51 18 26.09 PLEKHM1P 0 genome.wustl.edu 37 17 62800958 62800958 + RNA SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 62800958 62800958 C T SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.858 - - - no_errors PLEKHM1P HGNC ENSG00000214176 tier1 - - 69 0 0.00 33 18 35.29 PLXNA2 0 genome.wustl.edu 37 1 208213028 208213028 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 208213028 208213028 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.4438 p.E1480K 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 46 0 0.00 21 9 30.00 PPP4R2 0 genome.wustl.edu 37 3 73096461 73096461 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 73096461 73096461 G T SNP PPP4R2 ENST00000356692 human ensembl 74_37 +1 known missense c.241 p.D81Y 1.000 pfam_PPP4R2 pfam_PPP4R2 - no_errors PPP4R2 HGNC ENSG00000163605 49 0 0.00 23 2 8.00 PREX1 0 genome.wustl.edu 37 20 47251277 47251277 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 20 47251277 47251277 T C SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.4204 p.T1402A 0.995 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 tier1 - - 42 0 0.00 20 4 16.67 PSKH2 0 genome.wustl.edu 37 8 87060700 87060700 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 87060700 87060700 C T SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known silent c.1149 p.A383 0.006 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH2 HGNC ENSG00000147613 tier1 - - 98 0 0.00 52 23 30.67 RAI1 0 genome.wustl.edu 37 17 17701660 17701660 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 17701660 17701660 G A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.5398 p.D1800N 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 tier1 - - 56 0 0.00 24 8 25.00 RANBP6 0 genome.wustl.edu 37 9 6015307 6015307 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 9 6015307 6015307 G T SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.301 p.L101M 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 53 0 0.00 46 3 6.12 RHOBTB1 0 genome.wustl.edu 37 10 62648194 62648194 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 62648194 62648194 A G SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.1232 p.F411S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 tier1 - - 27 0 0.00 15 12 44.44 RLF 0 genome.wustl.edu 37 1 40654740 40654740 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 40654740 40654740 A G SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.251 p.Y84C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 - - 44 0 0.00 25 12 32.43 RNF213 0 genome.wustl.edu 37 17 78360667 78360667 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 78360667 78360667 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.14898 p.Q4966H 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 34 0 0.00 6 14 70.00 SCAPER 0 genome.wustl.edu 37 15 77096904 77096904 + Missense_Mutation SNP T T A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 15 77096904 77096904 T A SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.464 p.E155V 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 - - 54 0 0.00 18 5 21.74 SCN11A 0 genome.wustl.edu 37 3 38888583 38888583 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 38888583 38888583 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4978 p.A1660T 0.811 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 60 0 0.00 4 17 80.95 SEPT7P9 0 genome.wustl.edu 37 10 38680984 38680984 + RNA SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 10 38680984 38680984 G A SNP SEPT7P9 ENST00000475691 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SEPT7P9 HGNC ENSG00000120555 tier1 - - 183 0 0.00 80 25 23.81 SERPINA9 0 genome.wustl.edu 37 14 94942497 94942497 + Missense_Mutation SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 14 94942497 94942497 C A SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known missense c.13 p.G5C 0.045 NULL pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 tier1 - - 140 0 0.00 93 33 26.19 SI 0 genome.wustl.edu 37 3 164783108 164783108 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 164783108 164783108 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.748 p.R250C 0.998 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 rs200745562 - 45 0 0.00 23 11 32.35 SLC15A2 0 genome.wustl.edu 37 3 121634493 121634493 + Missense_Mutation SNP A A G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 3 121634493 121634493 A G SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.650 p.Y217C 1.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 tier1 - - 60 0 0.00 39 22 36.07 SLC38A9 0 genome.wustl.edu 37 5 55008260 55008260 + RNA SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 5 55008260 55008260 C A SNP SLC38A9 ENST00000504880 human ensembl 74_37 -1 known rna NULL NULL 0.065 - - - no_errors SLC38A9 HGNC ENSG00000177058 tier1 - - 44 0 0.00 6 19 76.00 SLC7A11 0 genome.wustl.edu 37 4 139103481 139103481 + Missense_Mutation SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 4 139103481 139103481 C A SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known missense c.1086 p.K362N 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 tier1 - - 58 0 0.00 10 16 61.54 SMYD4 0 genome.wustl.edu 37 17 1704284 1704284 + Missense_Mutation SNP T T A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 1704284 1704284 T A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known missense c.404 p.H135L 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 45 0 0.00 4 4 6.67 SNX7 0 genome.wustl.edu 37 1 99157106 99157106 + Missense_Mutation SNP T T G TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 99157106 99157106 T G SNP SNX7 ENST00000306121 human ensembl 74_37 +1 known missense c.490 p.F164V 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX7 HGNC ENSG00000162627 tier1 - - 51 0 0.00 26 8 23.53 SOWAHB 0 genome.wustl.edu 37 4 77816698 77816698 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 4 77816698 77816698 G T SNP SOWAHB ENST00000334306 human ensembl 74_37 -1 known missense c.2305 p.Q769K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 tier1 - - 111 0 0.00 48 4 7.69 SSBP1 0 genome.wustl.edu 37 7 141450109 141450109 + Splice_Site SNP A A T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 7 141450109 141450109 A T SNP SSBP1 ENST00000265304 human ensembl 74_37 +1 known splice_site c.404-2 e6-2 1.000 - - - no_errors SSBP1 HGNC ENSG00000106028 38 0 0.00 21 4 16.00 SSFA2 0 genome.wustl.edu 37 2 182774683 182774683 + Missense_Mutation SNP A A T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 2 182774683 182774683 A T SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.1471 p.T491S 0.538 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 65 0 0.00 35 2 5.26 SSR1 0 genome.wustl.edu 37 6 7269350 7269350 + RNA SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 7269350 7269350 C T SNP SSR1 ENST00000475213 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SSR1 HGNC ENSG00000124783 tier1 - - 127 0 0.00 53 23 30.26 STAG2 0 genome.wustl.edu 37 X 123210195 123210195 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 X 123210195 123210195 G T SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.2547 p.E849D 0.998 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 55 0 0.00 55 4 6.78 STARD10 0 genome.wustl.edu 37 11 72466800 72466800 + Splice_Site SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 11 72466800 72466800 T C SNP STARD10 ENST00000334805 human ensembl 74_37 -1 known splice_site c.578-2 e5-2 0.998 - - - no_errors STARD10 HGNC ENSG00000214530 tier1 - - 41 0 0.00 12 9 42.86 SYMPK 0 genome.wustl.edu 37 19 46333319 46333319 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 46333319 46333319 G T SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.1742 p.A581E 0.997 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 95 0 0.00 51 8 13.56 TADA2A 0 genome.wustl.edu 37 17 35800613 35800613 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 35800613 35800613 G T SNP TADA2A ENST00000225396 human ensembl 74_37 +1 known missense c.292 p.V98L 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 tier1 - - 65 0 0.00 45 4 8.16 TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 39 0 0.00 36 4 10.00 TMEM201 0 genome.wustl.edu 37 1 9661232 9661232 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 9661232 9661232 G T SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known missense c.676 p.A226S 0.897 pfam_DUF2448 pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 68 0 0.00 71 4 5.33 TMEM64 0 genome.wustl.edu 37 8 91657797 91657797 + Missense_Mutation SNP A A T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 8 91657797 91657797 A T SNP TMEM64 ENST00000458549 human ensembl 74_37 -1 known missense c.337 p.C113S 1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 tier1 - - 10 0 0.00 1 6 85.71 TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 17 7578403 7578403 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.527 p.C176Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 42 0 0.00 6 22 78.57 TRRAP 0 genome.wustl.edu 37 7 98548596 98548596 + Missense_Mutation SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 7 98548596 98548596 C A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5411 p.P1804Q 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 100 0 0.00 79 33 29.46 TUBB2A 0 genome.wustl.edu 37 6 3155143 3155143 + Missense_Mutation SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 6 3155143 3155143 C T SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known missense c.292 p.G98R 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 42 0 0.00 17 2 10.53 UBIAD1 0 genome.wustl.edu 37 1 11333860 11333860 + Missense_Mutation SNP T T A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 1 11333860 11333860 T A SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known missense c.272 p.V91D 1.000 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 tier1 - - 73 0 0.00 24 27 51.92 UCKL1 0 genome.wustl.edu 37 20 62572378 62572378 + Nonsense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 20 62572378 62572378 G A SNP UCKL1 ENST00000358711 human ensembl 74_37 -1 known nonsense c.1090 p.R364* 0.046 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 tier1 - - 40 0 0.00 19 5 20.83 WNT5B 0 genome.wustl.edu 37 12 1755098 1755098 + Missense_Mutation SNP G G A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 12 1755098 1755098 G A SNP WNT5B ENST00000310594 human ensembl 74_37 +1 known missense c.760 p.A254T 0.999 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 tier1 - - 50 0 0.00 53 23 30.26 ZFR 0 genome.wustl.edu 37 5 32355672 32355672 + RNA DEL T T - TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 5 32355672 32355672 T - DEL ZFR ENST00000510369 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZFR HGNC ENSG00000056097 tier1 16 0 0.00 24 3 11.11 ZNF221 0 genome.wustl.edu 37 19 44470083 44470083 + Silent SNP C C T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 44470083 44470083 C T SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known silent c.429 p.S143 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF221 HGNC ENSG00000159905 tier1 - - 76 0 0.00 15 10 40.00 ZNF554 0 genome.wustl.edu 37 19 2834252 2834252 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 2834252 2834252 G T SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known missense c.1019 p.S340I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF554 HGNC ENSG00000172006 23 0 0.00 15 2 11.76 ZNF709 0 genome.wustl.edu 37 19 12576489 12576489 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 19 12576489 12576489 T C SNP ZNF709 ENST00000397732 human ensembl 74_37 -1 known missense c.247 p.I83V 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 tier1 - - 79 0 0.00 28 30 51.72 ZNF804B 0 genome.wustl.edu 37 7 88963384 88963384 + Missense_Mutation SNP C C A TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a309e69-3970-434f-8504-fbd71533c8f7 d8f34a63-8393-4ded-b6ce-58e16e452144 7 88963384 88963384 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1088 p.A363E 0.213 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 22 0 0.00 20 6 23.08