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 ABCF2 10061 genome.wustl.edu 37 7 150918700 150918700 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 150918700 150918700 G A SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known silent c.885 p.I295 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ADCY9 115 genome.wustl.edu 37 16 4016873 4016873 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 4016873 4016873 G T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.2965 p.L989M 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ADPRH 141 genome.wustl.edu 37 3 119301229 119301229 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 119301229 119301229 G T SNP ADPRH ENST00000357003 human ensembl 70_37 +1 known silent c.213 p.G71 0.003 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC AGFG2 3268 genome.wustl.edu 37 7 100137181 100137181 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 100137181 100137181 C T SNP AGFG2 ENST00000300176 human ensembl 70_37 +1 known missense c.212 p.S71F 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC AKR1C1 1645 genome.wustl.edu 37 10 5008127 5008127 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 5008127 5008127 G C SNP AKR1C1 ENST00000380872 human ensembl 70_37 +1 known missense c.106 p.E36Q 0.368 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ANXA5 308 genome.wustl.edu 37 4 122605888 122605888 + Nonsense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 122605888 122605888 G A SNP ANXA5 ENST00000296511 human ensembl 70_37 -1 known nonsense c.133 p.R45* 0.958 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC APOB 338 genome.wustl.edu 37 2 21232108 21232108 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 21232108 21232108 G T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.7632 p.S2544R 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC AQR 9716 genome.wustl.edu 37 15 35166878 35166878 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 15 35166878 35166878 C T SNP AQR ENST00000156471 human ensembl 70_37 -1 known missense c.3425 p.S1142N 1.000 NULL NULL - no_errors AQR HGNC BCAN 63827 genome.wustl.edu 37 1 156622156 156622156 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 156622156 156622156 G A SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.1414 p.E472K 0.981 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC BCL9 607 genome.wustl.edu 37 1 147078585 147078585 + RNA SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 147078585 147078585 C T SNP BCL9 ENST00000497938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BCL9 HGNC BUD13 84811 genome.wustl.edu 37 11 116631614 116631614 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 116631614 116631614 C T SNP BUD13 ENST00000260210 human ensembl 70_37 -1 known missense c.1091 p.S364N 0.000 NULL pfam_Bud13 - no_errors BUD13 HGNC CAPN9 10753 genome.wustl.edu 37 1 230883277 230883277 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 230883277 230883277 C A SNP CAPN9 ENST00000271971 human ensembl 70_37 +1 known missense c.35 p.A12E 0.001 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN9 HGNC CCDC40 55036 genome.wustl.edu 37 17 78071135 78071135 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 78071135 78071135 C T SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.3113 p.S1038L 0.077 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC CDK18 5129 genome.wustl.edu 37 1 205499706 205499706 + RNA SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 205499706 205499706 G C SNP CDK18 ENST00000459862 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CDK18 HGNC CDO1 1036 genome.wustl.edu 37 5 115146870 115146870 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 115146870 115146870 C A SNP CDO1 ENST00000250535 human ensembl 70_37 -1 known missense c.391 p.A131S 1.000 pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC COL5A1 1289 genome.wustl.edu 37 9 137701008 137701008 + RNA SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 137701008 137701008 G C SNP COL5A1 ENST00000463925 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL5A1 HGNC COQ10A 93058 genome.wustl.edu 37 12 56661649 56661649 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 56661649 56661649 C T SNP COQ10A ENST00000308197 human ensembl 70_37 +1 known missense c.206 p.S69L 0.000 NULL pfam_Polyket_cyc - no_errors COQ10A HGNC DNAH12 201625 genome.wustl.edu 37 3 57493377 57493377 + Nonsense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 57493377 57493377 G C SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known nonsense c.890 p.S297* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC DNAJC27 51277 genome.wustl.edu 37 2 25170541 25170541 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 25170541 25170541 C T SNP DNAJC27 ENST00000264711 human ensembl 70_37 -1 known missense c.766 p.D256N 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC DOCK9 23348 genome.wustl.edu 37 13 99554035 99554035 + Silent SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 13 99554035 99554035 A G SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known silent c.1503 p.S501 0.985 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC DPEP2 64174 genome.wustl.edu 37 16 68023268 68023268 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 68023268 68023268 G C SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.1028 p.S343C 0.999 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102452449 102452449 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 102452449 102452449 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.1887 p.Q629 0.992 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENO3 2027 genome.wustl.edu 37 17 4859382 4859382 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 4859382 4859382 C T SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known silent c.1011 p.C337 0.995 pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000221244 0 genome.wustl.edu 37 5 1004311 1004312 + RNA DEL GT GT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 1004311 1004312 GT - DEL ENSG00000221244 ENST00000408317 human ensembl 70_37 +1 novel rna NULL NULL 0.057:0.050 - - - no_errors AC116351.2 Clone_based_ensembl_gene ENSG00000254282 0 genome.wustl.edu 37 5 147695441 147695441 + RNA DEL T T - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 147695441 147695441 T - DEL ENSG00000254282 ENST00000523913 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors RP11-373N22.4 Clone_based_vega_gene ENSG00000265803 0 genome.wustl.edu 37 6 158596078 158596078 + RNA SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 158596078 158596078 A G SNP ENSG00000265803 ENST00000580588 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL590703.1 Clone_based_ensembl_gene ENSG00000266962 0 genome.wustl.edu 37 17 40704901 40704901 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 40704901 40704901 G A SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-400F19.6 Clone_based_vega_gene EPS15 2060 genome.wustl.edu 37 1 51875224 51875224 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 51875224 51875224 C A SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.1258 p.A420S 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC FAM111A 63901 genome.wustl.edu 37 11 58920313 58920313 + Missense_Mutation SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 58920313 58920313 T C SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1172 p.V391A 0.280 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC FAM126B 285172 genome.wustl.edu 37 2 201846020 201846020 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 201846020 201846020 G C SNP FAM126B ENST00000418596 human ensembl 70_37 -1 known missense c.1566 p.F522L 1.000 NULL pfam_Hyccin - no_errors FAM126B HGNC FAM138D 677784 genome.wustl.edu 37 12 148078 148078 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 148078 148078 G A SNP FAM138D ENST00000320165 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM138D HGNC FAM160A1 729830 genome.wustl.edu 37 4 152499189 152499189 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 152499189 152499189 G T SNP FAM160A1 ENST00000435205 human ensembl 70_37 +1 known missense c.693 p.M231I 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC FAM171A1 221061 genome.wustl.edu 37 10 15290684 15290684 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 15290684 15290684 C T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.708 p.L236 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC FAT1 2195 genome.wustl.edu 37 4 187527311 187527311 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 187527311 187527311 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known silent c.10263 p.V3421 0.979 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FBXO43 286151 genome.wustl.edu 37 8 101146590 101146590 + Silent SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 8 101146590 101146590 C A SNP FBXO43 ENST00000428847 human ensembl 70_37 -1 known silent c.1677 p.G559 0.765 NULL pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC - no_errors FBXO43 HGNC FBXO47 494188 genome.wustl.edu 37 17 37094979 37094979 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 37094979 37094979 C G SNP FBXO47 ENST00000378079 human ensembl 70_37 -1 known missense c.1090 p.E364Q 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO47 HGNC GCSHP3 100329109 genome.wustl.edu 37 2 206980714 206980715 + RNA INS - - T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 206980714 206980715 - T INS GCSHP3 ENST00000453039 human ensembl 70_37 +1 known rna NULL NULL 0.025:0.033 - - - no_errors AC007383.4 Clone_based_vega_gene GPATCH2L 55668 genome.wustl.edu 37 14 76620866 76620866 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 76620866 76620866 C A SNP GPATCH2L ENST00000261530 human ensembl 70_37 +1 known missense c.160 p.L54M 1.000 NULL NULL - no_errors GPATCH2L HGNC GUCY2F 2986 genome.wustl.edu 37 X 108696942 108696942 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 X 108696942 108696942 C G SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1179 p.L393F 0.993 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC HLA-DPB1 3115 genome.wustl.edu 37 6 33048260 33048260 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 33048260 33048260 G A SNP HLA-DPB1 ENST00000471184 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors HLA-DPB1 HGNC HLA-DPB2 3116 genome.wustl.edu 37 6 33086433 33086433 + RNA SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 33086433 33086433 T C SNP HLA-DPB2 ENST00000435074 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors HLA-DPB2 HGNC IARS 3376 genome.wustl.edu 37 9 95002843 95002844 + RNA DEL TT TT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 95002843 95002844 TT - DEL IARS ENST00000474340 human ensembl 70_37 -1 known rna NULL NULL 0.018:0.021 - - - no_errors IARS HGNC IDO1 3620 genome.wustl.edu 37 8 39775486 39775486 + Frame_Shift_Del DEL G G - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 8 39775486 39775486 G - DEL IDO1 ENST00000518237 human ensembl 70_37 +1 known frame_shift_del c.180 p.K61fs 0.937 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC IGF2 3481 genome.wustl.edu 37 11 2154262 2154262 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 2154262 2154262 G T SNP IGF2 ENST00000434045 human ensembl 70_37 -1 known silent c.666 p.P222 0.097 pfam_IGF2_C pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC IL4R 3566 genome.wustl.edu 37 16 27353578 27353578 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 27353578 27353578 C T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known silent c.207 p.S69 0.004 pfam_IL4Ra_N,superfamily_Fibronectin_type3 pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC INTS3 65123 genome.wustl.edu 37 1 153721203 153721203 + Missense_Mutation SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 153721203 153721203 A G SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.556 p.S186G 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC AREL1 9870 genome.wustl.edu 37 14 75134036 75134036 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 75134036 75134036 C T SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known missense c.2089 p.E697K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC KIAA0319 9856 genome.wustl.edu 37 6 24559315 24559315 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 24559315 24559315 C T SNP KIAA0319 ENST00000378214 human ensembl 70_37 -1 known missense c.2660 p.R887Q 0.024 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC KIAA2026 158358 genome.wustl.edu 37 9 5968043 5968044 + Frame_Shift_Ins INS - - T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 5968043 5968044 - T INS KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel frame_shift_ins c.2188_2187 p.A729fs 1.000:1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC LAMA5 3911 genome.wustl.edu 37 20 60886121 60886121 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 20 60886121 60886121 C T SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.10118 p.R3373Q 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LCA5 167691 genome.wustl.edu 37 6 80198894 80198894 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 80198894 80198894 C A SNP LCA5 ENST00000369846 human ensembl 70_37 -1 known missense c.1138 p.G380W 0.895 NULL NULL - no_errors LCA5 HGNC LOC400743 400743 genome.wustl.edu 37 1 17521085 17521085 + RNA SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 17521085 17521085 G T SNP LOC400743 ENST00000412427 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-380J14.1 Clone_based_vega_gene LPP 4026 genome.wustl.edu 37 3 188327575 188327575 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 188327575 188327575 G A SNP LPP ENST00000312675 human ensembl 70_37 +1 known silent c.1056 p.K352 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC LRP12 29967 genome.wustl.edu 37 8 105502134 105502134 + RNA SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 8 105502134 105502134 T C SNP LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors LRP12 HGNC LRRC15 131578 genome.wustl.edu 37 3 194080554 194080554 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 194080554 194080554 C T SNP LRRC15 ENST00000439944 human ensembl 70_37 -1 known missense c.1237 p.G413S 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC LRRC36 55282 genome.wustl.edu 37 16 67405106 67405106 + Nonsense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 67405106 67405106 G T SNP LRRC36 ENST00000541146 human ensembl 70_37 +1 known nonsense c.28 p.E10* 0.645 NULL NULL - no_errors LRRC36 HGNC LRRC55 219527 genome.wustl.edu 37 11 56949990 56949990 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 56949990 56949990 G T SNP LRRC55 ENST00000497933 human ensembl 70_37 +1 known missense c.623 p.R208L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC MAT1A 4143 genome.wustl.edu 37 10 82034850 82034850 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 82034850 82034850 G A SNP MAT1A ENST00000372206 human ensembl 70_37 -1 known missense c.874 p.R292C 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC MCFD2 90411 genome.wustl.edu 37 2 47135004 47135004 + Missense_Mutation SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 47135004 47135004 T C SNP MCFD2 ENST00000319466 human ensembl 70_37 -1 known missense c.254 p.N85S 1.000 NULL pfscan_EF_HAND_2 - no_errors MCFD2 HGNC MYH10 4628 genome.wustl.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 8397095 8397097 CCT - DEL MYH10 ENST00000396239 human ensembl 70_37 -1 known in_frame_del c.4135_4133 p.E1378in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH6 4624 genome.wustl.edu 37 14 23853875 23853875 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 23853875 23853875 G T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.5341 p.L1781M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC NBPF1 55672 genome.wustl.edu 37 1 16889985 16889985 + RNA SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 16889985 16889985 T C SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors NBPF1 HGNC NEMF 9147 genome.wustl.edu 37 14 50269245 50269245 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 50269245 50269245 C T SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2021 p.R674K 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC NKAPL 222698 genome.wustl.edu 37 6 28227227 28227227 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 28227227 28227227 C T SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known silent c.78 p.S26 0.781 NULL pfam_DUF926 - no_errors NKAPL HGNC NRAP 4892 genome.wustl.edu 37 10 115383353 115383353 + Missense_Mutation SNP A A C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 115383353 115383353 A C SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.2416 p.F806V 0.996 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC OR7G1 125962 genome.wustl.edu 37 19 9225977 9225977 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 9225977 9225977 C T SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.463 p.D155N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC OSMR 9180 genome.wustl.edu 37 5 38884119 38884119 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 38884119 38884119 G T SNP OSMR ENST00000274276 human ensembl 70_37 +1 known silent c.609 p.V203 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC OTOGL 283310 genome.wustl.edu 37 12 80714324 80714324 + Frame_Shift_Del DEL T T - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 80714324 80714324 T - DEL OTOGL ENST00000458043 human ensembl 70_37 +1 known frame_shift_del c.3898 p.F1301fs 1.000 pfam_AbfB,superfamily_AbfB pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC PACS2 23241 genome.wustl.edu 37 14 105848285 105848285 + Missense_Mutation SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 105848285 105848285 A G SNP PACS2 ENST00000458164 human ensembl 70_37 +1 known missense c.1303 p.S435G 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC PGR 5241 genome.wustl.edu 37 11 100912793 100912793 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 100912793 100912793 C G SNP PGR ENST00000325455 human ensembl 70_37 -1 known missense c.2529 p.E843D 0.936 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC PIP5K1C 23396 genome.wustl.edu 37 19 3656474 3656474 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 3656474 3656474 C T SNP PIP5K1C ENST00000537021 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC PPM1E 22843 genome.wustl.edu 37 17 56833497 56833497 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 56833497 56833497 C T SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.139 p.P47S 0.999 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC PRICKLE1 144165 genome.wustl.edu 37 12 42858228 42858228 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 42858228 42858228 C T SNP PRICKLE1 ENST00000345127 human ensembl 70_37 -1 known silent c.1608 p.S536 0.941 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC PRPF3 9129 genome.wustl.edu 37 1 150307413 150307413 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 150307413 150307413 G C SNP PRPF3 ENST00000324862 human ensembl 70_37 +1 known missense c.736 p.E246Q 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI - no_errors PRPF3 HGNC PRR12 57479 genome.wustl.edu 37 19 50102572 50102572 + Nonsense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 50102572 50102572 C G SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel nonsense c.3722 p.S1241* 0.001 NULL NULL - no_errors PRR12 HGNC RABEPK 10244 genome.wustl.edu 37 9 127990332 127990332 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 127990332 127990332 G C SNP RABEPK ENST00000373538 human ensembl 70_37 +1 known missense c.670 p.D224H 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC RB1 5925 genome.wustl.edu 37 13 48954327 48954328 + Frame_Shift_Del DEL AT AT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 13 48954327 48954328 AT - DEL RB1 ENST00000267163 human ensembl 70_37 +1 known frame_shift_del c.1448_1449 p.M484fs 1.000:1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RCC2 55920 genome.wustl.edu 37 1 17735520 17735520 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 17735520 17735520 G A SNP RCC2 ENST00000474892 human ensembl 70_37 -1 known rna NULL NULL 0.888 - - - no_errors RCC2 HGNC RFX1 5989 genome.wustl.edu 37 19 14074708 14074708 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 14074708 14074708 G A SNP RFX1 ENST00000254325 human ensembl 70_37 -1 known silent c.2323 p.L775 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ROBO1 6091 genome.wustl.edu 37 3 78676546 78676546 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 78676546 78676546 G T SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.3800 p.P1267Q 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC SEPSECS 51091 genome.wustl.edu 37 4 25125674 25125674 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 25125674 25125674 C G SNP SEPSECS ENST00000382103 human ensembl 70_37 -1 known missense c.1385 p.R462T 0.996 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Sec-tRNA_Se_transferase - no_errors SEPSECS HGNC SLC6A7 6534 genome.wustl.edu 37 5 149583497 149583497 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 149583497 149583497 G T SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known missense c.1228 p.A410S 0.978 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC SLCO4A1 28231 genome.wustl.edu 37 20 61291826 61291826 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 20 61291826 61291826 C T SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known missense c.950 p.S317F 0.157 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC SNW1 22938 genome.wustl.edu 37 14 78189584 78189584 + Missense_Mutation SNP T T A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 78189584 78189584 T A SNP SNW1 ENST00000261531 human ensembl 70_37 -1 known missense c.1070 p.H357L 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC SNW1 22938 genome.wustl.edu 37 14 78205174 78205174 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 78205174 78205174 G T SNP SNW1 ENST00000261531 human ensembl 70_37 -1 known silent c.480 p.A160 0.855 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC SPIN2B 474343 genome.wustl.edu 37 X 57146635 57146635 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 X 57146635 57146635 G A SNP SPIN2B ENST00000275988 human ensembl 70_37 -1 known missense c.428 p.S143F 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2B HGNC SZRD1 26099 genome.wustl.edu 37 1 16719862 16719862 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 16719862 16719862 C A SNP SZRD1 ENST00000375590 human ensembl 70_37 +1 known missense c.181 p.P61T 1.000 NULL NULL - no_errors SZRD1 HGNC SZT2 23334 genome.wustl.edu 37 1 43895462 43895462 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 43895462 43895462 G A SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.4084 p.D1362N 0.990 NULL NULL - no_errors SZT2 HGNC TET1 80312 genome.wustl.edu 37 10 70405157 70405157 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 70405157 70405157 G T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2671 p.V891L 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TMEM196 256130 genome.wustl.edu 37 7 19765158 19765158 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 19765158 19765158 G T SNP TMEM196 ENST00000405764 human ensembl 70_37 -1 known missense c.438 p.H146Q 0.998 NULL NULL - no_errors TMEM196 HGNC TMEM87B 84910 genome.wustl.edu 37 2 112843658 112843658 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 112843658 112843658 G T SNP TMEM87B ENST00000283206 human ensembl 70_37 +1 known silent c.915 p.V305 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87B HGNC TNIK 23043 genome.wustl.edu 37 3 170781816 170781816 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 170781816 170781816 G A SNP TNIK ENST00000464785 human ensembl 70_37 -1 putative rna NULL NULL 0.999 - - - no_errors TNIK HGNC TNKS1BP1 85456 genome.wustl.edu 37 11 57069935 57069935 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 57069935 57069935 C T SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.4681 p.E1561K 0.993 NULL NULL - no_errors TNKS1BP1 HGNC TPD52L1 7164 genome.wustl.edu 37 6 125573171 125573171 + Silent SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 125573171 125573171 T C SNP TPD52L1 ENST00000304877 human ensembl 70_37 +1 novel silent c.390 p.S130 0.993 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC TPRN 286262 genome.wustl.edu 37 9 140094220 140094220 + Missense_Mutation SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 140094220 140094220 A G SNP TPRN ENST00000409012 human ensembl 70_37 -1 known missense c.944 p.L315P 0.874 NULL NULL - no_errors TPRN HGNC TRIM33 51592 genome.wustl.edu 37 1 114968154 114968154 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 114968154 114968154 G T SNP TRIM33 ENST00000358465 human ensembl 70_37 -1 known missense c.1612 p.Q538K 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain - no_errors TRIM33 HGNC TRRAP 8295 genome.wustl.edu 37 7 98581100 98581100 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 98581100 98581100 G T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.9019 p.G3007C 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT 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 TTN 7273 genome.wustl.edu 37 2 179435285 179435285 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 179435285 179435285 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.67870 p.E22624K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UBR4 23352 genome.wustl.edu 37 1 19420536 19420536 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 19420536 19420536 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.13844 p.G4615D 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ULK4 54986 genome.wustl.edu 37 3 41504718 41504718 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 41504718 41504718 G C SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.3253 p.L1085V 0.993 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC USP32P1 162632 genome.wustl.edu 37 17 16691337 16691337 + RNA DEL G G - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 16691337 16691337 G - DEL USP32P1 ENST00000393005 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors USP32P1 HGNC VPS13A 23230 genome.wustl.edu 37 9 79897050 79897050 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 79897050 79897050 C T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.2978 p.S993F 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC WDR38 401551 genome.wustl.edu 37 9 127618159 127618159 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 127618159 127618159 G A SNP WDR38 ENST00000373574 human ensembl 70_37 +1 known silent c.327 p.E109 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC WDR81 124997 genome.wustl.edu 37 17 1637052 1637052 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 1637052 1637052 C T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.4721 p.S1574F 0.487 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WNT8B 7479 genome.wustl.edu 37 10 102241723 102241723 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 102241723 102241723 C T SNP WNT8B ENST00000343737 human ensembl 70_37 +1 known missense c.422 p.A141V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ZNF385A 25946 genome.wustl.edu 37 12 54764831 54764831 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 54764831 54764831 G C SNP ZNF385A ENST00000338010 human ensembl 70_37 -1 known missense c.714 p.I238M 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC