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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val FL 0 genome.wustl.edu 37 X 153588591 153588591 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 X 153588591 153588591 G A SNP FL ENST00000369850 human ensembl 74_37 -1 known missense c.3572 p.A1191V 0.994 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FL HGNC ENSG00000196924 tier1 - - 22 0 0.00 22 5 18.52 ZNF704 0 genome.wustl.edu 37 8 81577288 81577288 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 8 81577288 81577288 C A SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known missense c.689 p.G230V 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 tier1 - - 48 0 0.00 21 3 12.50 YAF2 0 genome.wustl.edu 37 12 42629563 42629563 + R DEL A A - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 12 42629563 42629563 A - DEL YAF2 ENST00000541702 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors YAF2 HGNC ENSG00000015153 tier1 25 0 0.00 21 4 16.00 FAP 0 genome.wustl.edu 37 2 163031447 163031447 + Silent SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 163031447 163031447 G T SNP FAP ENST00000188790 human ensembl 74_37 -1 known silent c.1899 p.A633 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 - - 42 0 0.00 29 4 12.12 KIAA0895 0 genome.wustl.edu 37 7 36406403 36406403 + Nonsense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 7 36406403 36406403 G A SNP KIAA0895 ENST00000338533 human ensembl 74_37 -1 known nonsense c.49 p.R17* 0.000 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 tier1 - - 21 0 0.00 24 4 14.29 MERTK 0 genome.wustl.edu 37 2 112687051 112687051 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 112687051 112687051 G A SNP MERTK ENST00000295408 human ensembl 74_37 +1 known missense c.416 p.G139E 0.940 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 tier1 - - 31 0 0.00 21 4 16.00 CAC1A 0 genome.wustl.edu 37 19 13446677 13446677 + Missense_Mutation SNP G G C TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 19 13446677 13446677 G C SNP CAC1A ENST00000360228 human ensembl 74_37 -1 known missense c.1025 p.P342R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 - - 75 0 0.00 57 14 19.72 TTN 0 genome.wustl.edu 37 2 179554618 179554618 + Nonsense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 179554618 179554618 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.28036 p.E9346* 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 28 0 0.00 13 3 18.75 CELSR1 0 genome.wustl.edu 37 22 46782439 46782439 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 22 46782439 46782439 C A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.6599 p.R2200M 0.740 pfam_DUF3497 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 CELSR1 HGNC ENSG00000075275 tier1 - - 54 0 0.00 33 5 13.16 PPARGC1B 0 genome.wustl.edu 37 5 149227102 149227102 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 5 149227102 149227102 C T SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known missense c.3053 p.A1018V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 tier1 - - 46 0 0.00 31 11 26.19 LAMA3 0 genome.wustl.edu 37 18 21413940 21413940 + Missense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 18 21413940 21413940 G T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.2972 p.S991I 1.000 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 36 0 0.00 13 4 23.53 DIEXF 0 genome.wustl.edu 37 1 210006614 210006614 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 1 210006614 210006614 C T SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known missense c.473 p.T158I 1.000 NULL pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 tier1 - - 34 0 0.00 42 4 8.70 ZDHHC11B 0 genome.wustl.edu 37 5 710879 710879 + R SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 5 710879 710879 G A SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 49 0 0.00 44 6 12.00 ENSG00000215923 0 genome.wustl.edu 37 12 16562210 16562210 + R SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 12 16562210 16562210 G A SNP ENSG00000215923 ENST00000401104 human ensembl 74_37 -1 novel rna NULL NULL 0.015 - - - no_errors AC007528.1 Clone_based_ensembl_gene ENSG00000215923 tier1 - - 28 0 0.00 24 3 11.11 TTI1 0 genome.wustl.edu 37 20 36640746 36640746 + Silent SNP A A T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 20 36640746 36640746 A T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known silent c.1473 p.V491 0.417 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 - - 32 0 0.00 25 4 13.79 RTTN 0 genome.wustl.edu 37 18 67671407 67671407 + Nonsense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 18 67671407 67671407 G A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known nonsense c.6661 p.Q2221* 0.956 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 - - 51 0 0.00 24 3 11.11 GPR15 0 genome.wustl.edu 37 3 98251458 98251458 + Missense_Mutation SNP T T C TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 3 98251458 98251458 T C SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known missense c.581 p.I194T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 tier1 - - 39 0 0.00 32 4 11.11 MIA 0 genome.wustl.edu 37 19 41281484 41281484 + Silent SNP T T C TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 19 41281484 41281484 T C SNP MIA ENST00000263369 human ensembl 74_37 +1 known silent c.37 p.L13 0.940 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors MIA HGNC ENSG00000261857 tier1 - - 31 0 0.00 35 4 10.26 PEX13 0 genome.wustl.edu 37 2 61259221 61259221 + Missense_Mutation SNP T T A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 61259221 61259221 T A SNP PEX13 ENST00000295030 human ensembl 74_37 +1 known missense c.760 p.L254M 1.000 pfam_Peroxin-13_N pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PEX13 HGNC ENSG00000162928 tier1 - - 42 0 0.00 27 4 12.90 UBB 0 genome.wustl.edu 37 17 16285600 16285600 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 17 16285600 16285600 G A SNP UBB ENST00000302182 human ensembl 74_37 +1 novel missense c.379 p.E127K 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBB HGNC ENSG00000170315 tier1 - - 113 0 0.00 72 8 9.88 UBE3C 0 genome.wustl.edu 37 7 157013394 157013394 + Silent SNP C C G TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 7 157013394 157013394 C G SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known silent c.1926 p.L642 0.970 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 tier1 - - 41 0 0.00 48 10 17.24 ABCA13 0 genome.wustl.edu 37 7 48411945 48411945 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 7 48411945 48411945 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.10984 p.V3662I 0.009 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 35 0 0.00 49 6 10.91 KIF9-AS1 0 genome.wustl.edu 37 3 47281372 47281372 + R SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 3 47281372 47281372 G A SNP KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 tier1 rs140593426 - 44 0 0.00 38 7 15.56 CANX 0 genome.wustl.edu 37 5 179132824 179132824 + Missense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 5 179132824 179132824 G T SNP CANX ENST00000415618 human ensembl 74_37 +1 known missense c.247 p.D83Y 0.976 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 tier1 - - 36 0 0.00 29 4 12.12 SCGN 0 genome.wustl.edu 37 6 25661862 25661862 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 6 25661862 25661862 G A SNP SCGN ENST00000377961 human ensembl 74_37 +1 known missense c.236 p.R79Q 0.190 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SCGN HGNC ENSG00000079689 tier1 - - 45 0 0.00 43 8 15.69 NT5DC3 0 genome.wustl.edu 37 12 104181307 104181307 + Splice_Site SNP T T G TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 12 104181307 104181307 T G SNP NT5DC3 ENST00000392876 human ensembl 74_37 -1 known splice_site c.1102-2 e11-2 0.999 - - - no_errors NT5DC3 HGNC ENSG00000111696 tier1 - - 12 0 0.00 14 4 22.22 KANSL1 0 genome.wustl.edu 37 17 44144936 44144936 + Missense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 17 44144936 44144936 G T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.1631 p.P544H 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 tier1 - - 31 0 0.00 20 3 13.04 CBLN2 0 genome.wustl.edu 37 18 70209247 70209247 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 18 70209247 70209247 C T SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.149 p.R50Q 0.998 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 tier1 - - 33 0 0.00 22 3 12.00 NPY4R 0 genome.wustl.edu 37 10 47087160 47087160 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 10 47087160 47087160 C T SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.377 p.T126M 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 tier1 rs149694580 - 57 0 0.00 37 4 9.76 PRKXP1 0 genome.wustl.edu 37 15 101088125 101088126 + R INS - - T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 15 101088125 101088126 - T INS PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 9 0 0.00 7 4 36.36 ANKRD62 0 genome.wustl.edu 37 18 12126346 12126346 + Silent SNP A A G TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 18 12126346 12126346 A G SNP ANKRD62 ENST00000314074 human ensembl 74_37 +1 known silent c.2484 p.R828 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 tier1 - - 41 0 0.00 31 6 16.22 WDR66 0 genome.wustl.edu 37 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 12 122359385 122359385 C - DEL WDR66 ENST00000288912 human ensembl 74_37 +1 known frame_shift_del c.174 p.E59fs 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 23 0 0.00 20 4 16.67 CDK18 0 genome.wustl.edu 37 1 205501365 205501365 + R SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 1 205501365 205501365 G T SNP CDK18 ENST00000509056 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CDK18 HGNC ENSG00000117266 tier1 - - 35 0 0.00 23 10 30.30 PHIP 0 genome.wustl.edu 37 6 79752576 79752576 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 6 79752576 79752576 C T SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.584 p.G195D 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 44 0 0.00 45 4 8.16 BCAR3 0 genome.wustl.edu 37 1 94032937 94032937 + Frame_Shift_Del DEL T T - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 1 94032937 94032937 T - DEL BCAR3 ENST00000260502 human ensembl 74_37 -1 known frame_shift_del c.2198 p.N733fs 0.995 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 tier1 29 0 0.00 34 3 8.11 ENSG00000258437 0 genome.wustl.edu 37 14 91142581 91142582 + R INS - - GAAATTAACT TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 14 91142581 91142582 - GAAATTAACT INS ENSG00000258437 ENST00000554967 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.000 - - - no_errors RP11-661G16.1 Clone_based_vega_gene ENSG00000258437 tier1 RASGEF1B 0 genome.wustl.edu 37 4 82355797 82355797 + Missense_Mutation SNP A A T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 4 82355797 82355797 A T SNP RASGEF1B ENST00000264400 human ensembl 74_37 -1 known missense c.1196 p.F399Y 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 tier1 - - 52 0 0.00 39 10 20.41 GFRAL 0 genome.wustl.edu 37 6 55196591 55196591 + Missense_Mutation SNP A A T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 6 55196591 55196591 A T SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known missense c.101 p.D34V 0.164 smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 tier1 - - 47 0 0.00 30 4 11.76 CHST4 0 genome.wustl.edu 37 16 71570964 71570964 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 16 71570964 71570964 C A SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known missense c.384 p.N128K 0.130 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 tier1 - - 43 0 0.00 36 5 12.20 ENSG00000215954 0 genome.wustl.edu 37 11 112118610 112118619 + R DEL ACACACACAC ACACACACAC - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 ACACACACAC ACACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 11 112118610 112118619 ACACACACAC - DEL ENSG00000215954 ENST00000401135 human ensembl 74_37 +1 novel rna NULL NULL 0.028:0.021:0.024:0.025:0.042:0.052:0.057:0.059:0.067:0.070 - - - no_errors AP002884.1 Clone_based_ensembl_gene ENSG00000215954 tier1 ZBTB12 0 genome.wustl.edu 37 6 31868083 31868083 + Missense_Mutation SNP T T C TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 6 31868083 31868083 T C SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known missense c.1000 p.K334E 0.998 smart_Znf_C2H2-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 tier1 - - 49 0 0.00 33 4 10.81 TOP2B 0 genome.wustl.edu 37 3 25675377 25675377 + Silent SNP T T C TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 3 25675377 25675377 T C SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known silent c.981 p.K327 1.000 pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 33 0 0.00 17 3 15.00 COL17A1 0 genome.wustl.edu 37 10 105830313 105830313 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 10 105830313 105830313 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.478 p.D160N 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 39 0 0.00 29 5 14.71 PCDHB6 0 genome.wustl.edu 37 5 140531451 140531451 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 5 140531451 140531451 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1613 p.A538V 0.485 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 186 1 0.53 145 42 22.46 SORCS3 0 genome.wustl.edu 37 10 106974338 106974338 + Silent SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 10 106974338 106974338 G A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.2514 p.G838 0.914 pfam_PKD_dom,superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 31 0 0.00 28 4 12.50 AKAP11 0 genome.wustl.edu 37 13 42873842 42873843 + Frame_Shift_Del DEL GG GG - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 13 42873842 42873843 GG - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.960_961 p.D321fs 0.995:1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 17 0 0.00 17 2 10.53 ST3GAL6 0 genome.wustl.edu 37 3 98489969 98489969 + Missense_Mutation SNP A A T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 3 98489969 98489969 A T SNP ST3GAL6 ENST00000469105 human ensembl 74_37 +1 known missense c.172 p.S58C 0.044 NULL NULL - no_errors ST3GAL6 HGNC ENSG00000064225 tier1 - - 33 0 0.00 26 8 23.53 KDM6B 0 genome.wustl.edu 37 17 7750177 7750178 + In_Frame_Ins INS - - ACCACC TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 17 7750177 7750178 - ACCACC INS KDM6B ENST00000254846 human ensembl 74_37 +1 known in_frame_ins c.752_753 p.255in_frame_insPP 0.470:0.528 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 tier1 GDF3 0 genome.wustl.edu 37 12 7843124 7843124 + Silent SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 12 7843124 7843124 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known silent c.445 p.L149 0.850 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 tier1 - - 27 0 0.00 25 6 19.35 TRANK1 0 genome.wustl.edu 37 3 36874693 36874693 + Silent SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 3 36874693 36874693 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.6249 p.C2083 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 39 0 0.00 20 3 13.04 GBE1 0 genome.wustl.edu 37 3 81586138 81586138 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 3 81586138 81586138 C T SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.1727 p.R576H 1.000 superfamily_Glycoside_hydrolase_SF pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 24 0 0.00 14 4 22.22 SALL1 0 genome.wustl.edu 37 16 51185193 51185193 + R DEL A A - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 16 51185193 51185193 A - DEL SALL1 ENST00000562674 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SALL1 HGNC ENSG00000103449 tier1 48 0 0.00 22 3 12.00 CUZD1 0 genome.wustl.edu 37 10 124594289 124594289 + Missense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 10 124594289 124594289 G T SNP CUZD1 ENST00000368904 human ensembl 74_37 -1 known missense c.1315 p.L439I 0.730 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 tier1 - - 43 0 0.00 37 4 9.76 ANPEP 0 genome.wustl.edu 37 15 90348420 90348420 + Silent SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 15 90348420 90348420 G T SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known silent c.786 p.P262 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 tier1 - - 76 0 0.00 63 9 12.16 DOCK7 0 genome.wustl.edu 37 1 63084514 63084514 + Silent SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 1 63084514 63084514 G T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known silent c.1545 p.P515 0.992 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 tier1 - - 49 0 0.00 19 3 13.64 FAM47B 0 genome.wustl.edu 37 X 34961058 34961058 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 X 34961058 34961058 G A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.110 p.R37H 0.009 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 tier1 - - 31 0 0.00 17 5 22.73 SCAMP1 0 genome.wustl.edu 37 5 77772627 77772628 + R INS - - A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 5 77772627 77772628 - A INS SCAMP1 ENST00000320280 human ensembl 74_37 +1 known rna NULL NULL 0.258:0.109 - - - no_errors SCAMP1 HGNC ENSG00000085365 tier1 21 0 0.00 18 3 14.29 DCAF11 0 genome.wustl.edu 37 14 24587326 24587326 + Missense_Mutation SNP A A G TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 14 24587326 24587326 A G SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.539 p.Y180C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 tier1 - - 38 0 0.00 19 11 36.67 SPATA31D1 0 genome.wustl.edu 37 9 84606727 84606727 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 9 84606727 84606727 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.1342 p.L448I 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 75 0 0.00 62 18 22.50 C12orf44 0 genome.wustl.edu 37 12 52467507 52467507 + Silent SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 12 52467507 52467507 C T SNP C12orf44 ENST00000336854 human ensembl 74_37 +1 known silent c.73 p.L25 1.000 pfam_ATG101 pfam_ATG101 - no_errors C12orf44 HGNC ENSG00000123395 tier1 - - 21 0 0.00 12 3 20.00 SLFN5 0 genome.wustl.edu 37 17 33592322 33592322 + Silent SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 17 33592322 33592322 C T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known silent c.2091 p.P697 0.000 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 tier1 - - 23 0 0.00 29 6 17.14 TNKS2 0 genome.wustl.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 10 93601945 93601946 - A INS TNKS2 ENST00000371627 human ensembl 74_37 +1 known frame_shift_ins c.1856_1857 p.N622fs 1.000:0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 tier1 50 0 0.00 40 5 11.11 AHK2 0 genome.wustl.edu 37 14 105419754 105419754 + Frame_Shift_Del DEL G G - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 14 105419754 105419754 G - DEL AHK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.2034 p.K679fs 0.215 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 106 0 0.00 83 14 14.43 ENSG00000203849 0 genome.wustl.edu 37 1 142720897 142720898 + R INS - - A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 1 142720897 142720898 - A INS ENSG00000203849 ENST00000595144 human ensembl 74_37 -1 known rna NULL NULL 0.135:0.096 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 33 0 0.00 32 4 11.11 CAPN1 0 genome.wustl.edu 37 11 64972271 64972271 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 11 64972271 64972271 G A SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known missense c.1283 p.R428H 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 tier1 - - 35 0 0.00 31 4 11.43 GAREML 0 genome.wustl.edu 37 2 26410411 26410411 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 26410411 26410411 C T SNP GAREML ENST00000401533 human ensembl 74_37 +1 known missense c.1910 p.A637V 0.868 NULL superfamily_SAM/pointed - no_errors GAREML HGNC ENSG00000157833 tier1 - - 42 0 0.00 45 4 8.16 ENSG00000233825 0 genome.wustl.edu 37 10 32635990 32635990 + R SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 10 32635990 32635990 C T SNP ENSG00000233825 ENST00000412085 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors RP11-135A24.4 Clone_based_vega_gene ENSG00000233825 tier1 - - 36 0 0.00 37 4 9.76 ENSG00000224643 0 genome.wustl.edu 37 2 183948142 183948142 + R DEL T T - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 183948142 183948142 T - DEL ENSG00000224643 ENST00000444562 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC064871.3 Clone_based_vega_gene ENSG00000224643 tier1 25 0 0.00 11 3 21.43 SYTL2 0 genome.wustl.edu 37 11 85436022 85436022 + Missense_Mutation SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 11 85436022 85436022 G A SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.3050 p.T1017M 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 tier1 rs201893430 - 37 0 0.00 22 5 18.52 ESRP1 0 genome.wustl.edu 37 8 95680252 95680252 + Missense_Mutation SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 8 95680252 95680252 C T SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1007 p.T336M 0.995 smart_RRM_dom,pfscan_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 - - 26 0 0.00 18 3 14.29 LINC00266-1 0 genome.wustl.edu 37 20 62934877 62934877 + R SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 20 62934877 62934877 C T SNP LINC00266-1 ENST00000279067 human ensembl 74_37 +1 known rna NULL NULL 0.886 - - - no_errors LINC00266-1 HGNC ENSG00000149656 tier1 - - 39 0 0.00 24 4 14.29 SF3B1 0 genome.wustl.edu 37 2 198265477 198265477 + Missense_Mutation SNP C C G TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 198265477 198265477 C G SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.2680 p.D894H 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 tier1 - - 34 0 0.00 14 4 22.22 PPP1R37 0 genome.wustl.edu 37 19 45645655 45645655 + Silent SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 19 45645655 45645655 G A SNP PPP1R37 ENST00000221462 human ensembl 74_37 +1 known silent c.813 p.L271 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 tier1 - - 38 0 0.00 39 4 9.30 GALNT18 0 genome.wustl.edu 37 11 11348716 11348716 + Missense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 11 11348716 11348716 G T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.1429 p.L477M 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 tier1 - - 42 0 0.00 21 3 12.50 PATL1 0 genome.wustl.edu 37 11 59423447 59423447 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 11 59423447 59423447 C A SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.795 p.Q265H 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 tier1 - - 38 0 0.00 39 4 9.30 LINC01001 0 genome.wustl.edu 37 11 134722 134722 + R SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 11 134722 134722 G T SNP LINC01001 ENST00000527683 human ensembl 74_37 -1 known rna NULL NULL 0.193 - - - no_errors LINC01001 HGNC ENSG00000230724 tier1 - - 8 0 0.00 5 4 44.44 ZNF232 0 genome.wustl.edu 37 17 5009410 5009410 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 17 5009410 5009410 C A SNP ZNF232 ENST00000250076 human ensembl 74_37 -1 known missense c.1044 p.Q348H 0.287 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 tier1 - - 26 0 0.00 16 3 15.79 NLRC4 0 genome.wustl.edu 37 2 32449835 32449835 + Splice_Site SNP C C T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 32449835 32449835 C T SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known splice_site c.2783-1 e8-1 0.686 - - - no_errors NLRC4 HGNC ENSG00000091106 tier1 - - 52 0 0.00 24 4 14.29 TMX4 0 genome.wustl.edu 37 20 7962918 7962918 + Missense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 20 7962918 7962918 G T SNP TMX4 ENST00000246024 human ensembl 74_37 -1 known missense c.1030 p.H344N 0.012 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 tier1 - - 24 0 0.00 27 4 12.90 PCLO 0 genome.wustl.edu 37 7 82578847 82578847 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 7 82578847 82578847 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11057 p.S3686I 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 34 0 0.00 8 14 63.64 NUDCD2 0 genome.wustl.edu 37 5 162884088 162884089 + Splice_Site INS - - A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 5 162884088 162884089 - A INS NUDCD2 ENST00000302764 human ensembl 74_37 -1 known splice_site_ins c.239-3_239-2 e3-2 0.984:0.001 - - - no_errors NUDCD2 HGNC ENSG00000170584 tier1 40 0 0.00 21 3 12.50 MGA 0 genome.wustl.edu 37 15 41989180 41989180 + Nonsense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 15 41989180 41989180 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.1972 p.E658* 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_D-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 49 0 0.00 46 4 8.00 ENSG00000266999 0 genome.wustl.edu 37 17 34236276 34236276 + R SNP G G A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 17 34236276 34236276 G A SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 tier1 - - 49 0 0.00 18 3 14.29 DSYN1 0 genome.wustl.edu 37 11 71194034 71194034 + Silent SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 11 71194034 71194034 G T SNP DSYN1 ENST00000319023 human ensembl 74_37 +1 known silent c.1290 p.R430 0.981 pfam_D/GMP_synthase,pirsf_Gln-dep_D_synthase,tigrfam_D_synthase pfam_C-N_Hydrolase,pfam_D/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_D_synthase,pfscan_C-N_Hydrolase,tigrfam_D_synthase - no_errors DSYN1 HGNC ENSG00000172890 tier1 - - 26 0 0.00 17 4 19.05 MAP3K19 0 genome.wustl.edu 37 2 135743708 135743708 + Missense_Mutation SNP G G T TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 2 135743708 135743708 G T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.2734 p.Q912K 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 MAP3K19 HGNC ENSG00000176601 tier1 - - 42 0 0.00 28 4 12.50 GABRA4 0 genome.wustl.edu 37 4 46930612 46930612 + Missense_Mutation SNP C C A TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3dc625e-3727-4265-87d7-9b2cf9404411 1fa50414-25db-4f96-a54c-62ff61f5f552 4 46930612 46930612 C A SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.1295 p.S432I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa4_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 40 0 0.00 38 6 13.33