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 ABL1 25 genome.wustl.edu 37 9 133759698 133759698 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 9 133759698 133759698 G A SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.2078 p.R693Q 1.000 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC AKR1E2 83592 genome.wustl.edu 37 10 4877913 4877913 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 4877913 4877913 G T SNP AKR1E2 ENST00000298375 human ensembl 70_37 +1 known missense c.371 p.C124F 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ALOXE3 59344 genome.wustl.edu 37 17 8021319 8021319 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 8021319 8021319 A G SNP ALOXE3 ENST00000318227 human ensembl 70_37 -1 known missense c.386 p.L129P 0.000 superfamily_Lipase_LipOase pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC AMOTL1 154810 genome.wustl.edu 37 11 94587123 94587123 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 94587123 94587123 A G SNP AMOTL1 ENST00000433060 human ensembl 70_37 +1 known missense c.1820 p.E607G 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ANO4 121601 genome.wustl.edu 37 12 101493406 101493406 + Missense_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 101493406 101493406 C A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.2057 p.P686H 0.084 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ANO7 50636 genome.wustl.edu 37 2 242149012 242149012 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 242149012 242149012 C T SNP ANO7 ENST00000274979 human ensembl 70_37 +1 known missense c.1483 p.R495C 0.017 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47591380 47591380 + Silent SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 47591380 47591380 G T SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1743 p.L581 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARMC9 80210 genome.wustl.edu 37 2 232234743 232234743 + RNA SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 232234743 232234743 A G SNP ARMC9 ENST00000483477 human ensembl 70_37 +1 known rna NULL NULL 0.652 - - - no_errors ARMC9 HGNC ASTN1 460 genome.wustl.edu 37 1 176857336 176857336 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 176857336 176857336 A G SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.2969 p.L990S 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ATF4P4 100127952 genome.wustl.edu 37 11 113660609 113660609 + RNA SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 113660609 113660609 G C SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ATF4P4 HGNC C6orf70 55780 genome.wustl.edu 37 6 170162585 170162585 + Silent SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 170162585 170162585 T C SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known silent c.918 p.F306 0.741 NULL NULL - no_errors C6orf70 HGNC CAPN14 440854 genome.wustl.edu 37 2 31423333 31423333 + Missense_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 31423333 31423333 C A SNP CAPN14 ENST00000444918 human ensembl 70_37 -1 known missense c.710 p.C237F 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN14 HGNC CDCP1 64866 genome.wustl.edu 37 3 45132717 45132717 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 45132717 45132717 G A SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known silent c.1941 p.S647 0.000 NULL superfamily_CUB - no_errors CDCP1 HGNC CDCP1 64866 genome.wustl.edu 37 3 45132718 45132718 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 45132718 45132718 C G SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known missense c.1940 p.S647T 0.003 NULL superfamily_CUB - no_errors CDCP1 HGNC CDK10 8558 genome.wustl.edu 37 16 89757893 89757893 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 89757893 89757893 G A SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.275 p.R92H 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors CDK10 HGNC CHGB 1114 genome.wustl.edu 37 20 5904601 5904601 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 5904601 5904601 T C SNP CHGB ENST00000378961 human ensembl 70_37 +1 known missense c.1811 p.V604A 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC COL4A6 1288 genome.wustl.edu 37 X 107418434 107418434 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 107418434 107418434 T C SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.2845 p.N949D 0.003 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC DENND4A 10260 genome.wustl.edu 37 15 65994218 65994218 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 65994218 65994218 C T SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.2441 p.R814H 1.000 tigrfam_Pentatricopeptide_repeat pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC DMXL2 23312 genome.wustl.edu 37 15 51748511 51748511 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 51748511 51748511 T C SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.8330 p.Q2777R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000244612 0 genome.wustl.edu 37 15 74364978 74364978 + RNA SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 74364978 74364978 G A SNP ENSG00000244612 ENST00000479090 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000268802 0 genome.wustl.edu 37 19 54864241 54864241 + RNA SNP T T A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 54864241 54864241 T A SNP ENSG00000268802 ENST00000596234 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2587H19.1 Clone_based_vega_gene ENSG00000269293 0 genome.wustl.edu 37 6 28104731 28104731 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 28104731 28104731 G C SNP ENSG00000269293 ENST00000600652 human ensembl 70_37 -1 known missense c.136 p.L46V 0.004 NULL NULL - no_errors AL358933.1 Clone_based_ensembl_gene ERBB4 2066 genome.wustl.edu 37 2 212530163 212530163 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 212530163 212530163 C T SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known missense c.1756 p.G586S 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB4 HGNC FBXO18 84893 genome.wustl.edu 37 10 5957376 5957376 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 5957376 5957376 G A SNP FBXO18 ENST00000379999 human ensembl 70_37 +1 known silent c.1560 p.K520 1.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC FCRL1 115350 genome.wustl.edu 37 1 157768000 157768000 + Silent SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 157768000 157768000 G T SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known silent c.1065 p.T355 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC FER1L6 654463 genome.wustl.edu 37 8 125025691 125025691 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 8 125025691 125025691 G A SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.1842 p.V614 0.966 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC FLNC 2318 genome.wustl.edu 37 7 128486419 128486419 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 7 128486419 128486419 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.4029 p.G1343 0.517 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 FLNC HGNC FREM3 166752 genome.wustl.edu 37 4 144621367 144621367 + Silent SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 144621367 144621367 C A SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative silent c.462 p.L154 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FRMPD2 143162 genome.wustl.edu 37 10 49392882 49392882 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 49392882 49392882 G A SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2402 p.P801L 0.993 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC FSIP2 401024 genome.wustl.edu 37 2 186668590 186668592 + In_Frame_Del DEL AGT AGT - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 186668590 186668592 AGT - DEL FSIP2 ENST00000343098 human ensembl 70_37 +1 known in_frame_del c.14824_14826 p.S4942in_frame_del 0.319:0.208:0.098 NULL NULL - no_errors FSIP2 HGNC GDF5 8200 genome.wustl.edu 37 20 34025308 34025308 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 34025308 34025308 G A SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.401 p.P134L 0.267 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC GEMIN6 79833 genome.wustl.edu 37 2 39008896 39008896 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 39008896 39008896 C T SNP GEMIN6 ENST00000281950 human ensembl 70_37 +1 known silent c.366 p.D122 0.000 pfam_Gemin6 pfam_Gemin6 - no_errors GEMIN6 HGNC GKAP1 80318 genome.wustl.edu 37 9 86421236 86421236 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 9 86421236 86421236 T C SNP GKAP1 ENST00000376371 human ensembl 70_37 -1 known missense c.197 p.Q66R 1.000 NULL NULL - no_errors GKAP1 HGNC GKAP1 80318 genome.wustl.edu 37 9 86421237 86421237 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 9 86421237 86421237 G T SNP GKAP1 ENST00000376371 human ensembl 70_37 -1 known missense c.196 p.Q66K 1.000 NULL NULL - no_errors GKAP1 HGNC GPR3 2827 genome.wustl.edu 37 1 27720959 27720959 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 27720959 27720959 C T SNP GPR3 ENST00000374024 human ensembl 70_37 +1 known silent c.657 p.I219 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn - no_errors GPR3 HGNC GRIN2A 2903 genome.wustl.edu 37 16 9857475 9857475 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 9857475 9857475 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.3926 p.R1309Q 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GSTA2 2939 genome.wustl.edu 37 6 52617759 52617759 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 52617759 52617759 C T SNP GSTA2 ENST00000493422 human ensembl 70_37 -1 known missense c.307 p.G103S 0.037 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA2 HGNC HBS1L 10767 genome.wustl.edu 37 6 135358772 135358772 + Missense_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 135358772 135358772 C A SNP HBS1L ENST00000367822 human ensembl 70_37 -1 known missense c.823 p.D275Y 0.030 NULL pfam_DUF1916 - no_errors HBS1L HGNC HDX 139324 genome.wustl.edu 37 X 83724332 83724332 + Silent SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 83724332 83724332 T C SNP HDX ENST00000297977 human ensembl 70_37 -1 known silent c.399 p.A133 0.946 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC HMCN1 83872 genome.wustl.edu 37 1 186050401 186050401 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 186050401 186050401 A G SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.8662 p.K2888E 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HN1L 90861 genome.wustl.edu 37 16 1741844 1741844 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 1741844 1741844 G A SNP HN1L ENST00000248098 human ensembl 70_37 +1 known missense c.194 p.G65E 0.999 NULL NULL - no_errors HN1L HGNC HRNR 388697 genome.wustl.edu 37 1 152189237 152189237 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 152189237 152189237 C G SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.4868 p.S1623T 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HSPG2 3339 genome.wustl.edu 37 1 22169400 22169400 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 22169400 22169400 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.8773 p.Q2925E 0.995 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HTR1D 3352 genome.wustl.edu 37 1 23519579 23519579 + Nonstop_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 23519579 23519579 C A SNP HTR1D ENST00000314113 human ensembl 70_37 -1 known nonstop c.1134 p.*378Y 0.396 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC IGF1R 3480 genome.wustl.edu 37 15 99465401 99465401 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 99465401 99465401 C T SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.2226 p.V742 0.119 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGSF10 285313 genome.wustl.edu 37 3 151155402 151155402 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 151155402 151155402 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.6947 p.R2316Q 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57180592 57180592 + Frame_Shift_Del DEL T T - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 57180592 57180592 T - DEL KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_del c.924 p.E309fs 0.000 NULL NULL - no_errors KIAA1211 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57180594 57180595 + Frame_Shift_Ins INS - - G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 57180594 57180595 - G INS KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_ins c.926_927 p.E310fs 0.011:0.002 NULL NULL - no_errors KIAA1211 HGNC LHX9 56956 genome.wustl.edu 37 1 197901077 197901077 + Missense_Mutation SNP A A C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 197901077 197901077 A C SNP LHX9 ENST00000561173 human ensembl 70_37 +1 putative missense c.983 p.Q328P 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX9 HGNC LOC619207 619207 genome.wustl.edu 37 10 135271991 135271991 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 135271991 135271991 G C SNP LOC619207 ENST00000333815 human ensembl 70_37 +1 putative missense c.810 p.Q270H 0.337 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors RP11-108K14.4 Clone_based_vega_gene LPHN3 23284 genome.wustl.edu 37 4 62761547 62761547 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 62761547 62761547 C G SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1882 p.Q628E 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC LYST 1130 genome.wustl.edu 37 1 235973634 235973634 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 235973634 235973634 G T SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.484 p.Q162K 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC MAGEB1 4112 genome.wustl.edu 37 X 30269213 30269213 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 30269213 30269213 G A SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known silent c.603 p.L201 0.046 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649283 75649283 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 75649283 75649283 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.960 p.V320 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649307 75649307 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 75649307 75649307 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.984 p.L328 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC KMT2D 8085 genome.wustl.edu 37 12 49439723 49439723 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 49439723 49439723 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4721 p.P1574L 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MYH2 4620 genome.wustl.edu 37 17 10427875 10427875 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 10427875 10427875 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.5083 p.R1695W 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC NAB2 4665 genome.wustl.edu 37 12 57488487 57488487 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 57488487 57488487 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.1561 p.E521K 1.000 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC NAPSA 9476 genome.wustl.edu 37 19 50865026 50865026 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 50865026 50865026 C T SNP NAPSA ENST00000253719 human ensembl 70_37 -1 known missense c.362 p.R121Q 0.023 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors NAPSA HGNC NAV3 89795 genome.wustl.edu 37 12 78515749 78515749 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 78515749 78515749 C G SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.3779 p.S1260C 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 178098810 178098810 C T SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NUDT12 83594 genome.wustl.edu 37 5 102895948 102895948 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 5 102895948 102895948 A G SNP NUDT12 ENST00000230792 human ensembl 70_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC OGT 8473 genome.wustl.edu 37 X 70779275 70779275 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 70779275 70779275 G A SNP OGT ENST00000373719 human ensembl 70_37 +1 known silent c.1761 p.E587 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC OR2C1 4993 genome.wustl.edu 37 16 3406533 3406533 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 3406533 3406533 T C SNP OR2C1 ENST00000304936 human ensembl 70_37 +1 known missense c.593 p.V198A 0.954 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C1 HGNC OR5D14 219436 genome.wustl.edu 37 11 55563530 55563530 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 55563530 55563530 C T SNP OR5D14 ENST00000335605 human ensembl 70_37 +1 known missense c.499 p.R167W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC OSBPL9 114883 genome.wustl.edu 37 1 52238276 52238276 + Splice_Site SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 52238276 52238276 G A SNP OSBPL9 ENST00000371710 human ensembl 70_37 +1 known splice_site c.1106-1 e14-1 1.000 - - - no_errors OSBPL9 HGNC PDHA2 5161 genome.wustl.edu 37 4 96762259 96762259 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 96762259 96762259 G T SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known missense c.958 p.D320Y 0.967 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC PGLYRP2 114770 genome.wustl.edu 37 19 15580365 15580365 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 15580365 15580365 G A SNP PGLYRP2 ENST00000292609 human ensembl 70_37 -1 known silent c.1719 p.A573 0.031 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178916930 178916930 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 178916930 178916930 G T SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.317 p.G106V 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PLXDC2 84898 genome.wustl.edu 37 10 20506461 20506461 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 20506461 20506461 G T SNP PLXDC2 ENST00000377252 human ensembl 70_37 +1 known missense c.1229 p.R410I 0.976 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like - no_errors PLXDC2 HGNC PPIL6 285755 genome.wustl.edu 37 6 109752404 109752404 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 109752404 109752404 C T SNP PPIL6 ENST00000521072 human ensembl 70_37 -1 known missense c.376 p.A126T 0.976 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC PRMT5 10419 genome.wustl.edu 37 14 23398532 23398532 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 14 23398532 23398532 G A SNP PRMT5 ENST00000324366 human ensembl 70_37 -1 known silent c.39 p.R13 1.000 pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC PSTPIP2 9050 genome.wustl.edu 37 18 43579406 43579406 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 18 43579406 43579406 T C SNP PSTPIP2 ENST00000409746 human ensembl 70_37 -1 known missense c.512 p.E171G 1.000 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors PSTPIP2 HGNC PTH2R 5746 genome.wustl.edu 37 2 209358187 209358187 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 209358187 209358187 C T SNP PTH2R ENST00000272847 human ensembl 70_37 +1 known missense c.1456 p.P486S 0.807 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC RANBP17 64901 genome.wustl.edu 37 5 170722906 170722906 + Silent SNP A A C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 5 170722906 170722906 A C SNP RANBP17 ENST00000523189 human ensembl 70_37 +1 known silent c.3058 p.R1020 1.000 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC RPGR 6103 genome.wustl.edu 37 X 38145271 38145272 + In_Frame_Ins INS - - CCC TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 38145271 38145272 - CCC INS RPGR ENST00000378505 human ensembl 70_37 -1 known in_frame_ins c.2981_2980 p.994in_frame_insG 0.060:0.135 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RUNDC1 146923 genome.wustl.edu 37 17 41142345 41142345 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 41142345 41142345 A G SNP RUNDC1 ENST00000361677 human ensembl 70_37 +1 known missense c.868 p.S290G 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC SCARF1 8578 genome.wustl.edu 37 17 1540334 1540334 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 1540334 1540334 C T SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1387 p.V463M 0.052 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC SERPINA9 327657 genome.wustl.edu 37 14 94945595 94945595 + RNA SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 14 94945595 94945595 C T SNP SERPINA9 ENST00000539349 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SERPINA9 HGNC SHANK3 85358 genome.wustl.edu 37 22 51117841 51117841 + Silent SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 22 51117841 51117841 T C SNP SHANK3 ENST00000262795 human ensembl 70_37 +1 known silent c.870 p.C290 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC SIGLEC1 6614 genome.wustl.edu 37 20 3677954 3677954 + Nonsense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 3677954 3677954 G A SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known nonsense c.2158 p.Q720* 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC SLC24A3 57419 genome.wustl.edu 37 20 19666001 19666001 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 19666001 19666001 C T SNP SLC24A3 ENST00000328041 human ensembl 70_37 +1 known silent c.1320 p.T440 0.995 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC STXBP5 134957 genome.wustl.edu 37 6 147680232 147680232 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 147680232 147680232 A G SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known missense c.2318 p.N773S 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC SYNDIG1 79953 genome.wustl.edu 37 20 24523867 24523867 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 24523867 24523867 C T SNP SYNDIG1 ENST00000376862 human ensembl 70_37 +1 known missense c.134 p.A45V 0.691 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152510392 152510392 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 152510392 152510392 G A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.23296 p.H7766Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TCEB3B 51224 genome.wustl.edu 37 18 44561176 44561176 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 18 44561176 44561176 C G SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known missense c.460 p.E154Q 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC THSD7A 221981 genome.wustl.edu 37 7 11419307 11419307 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 7 11419307 11419307 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.4540 p.D1514N 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC TMEM80 283232 genome.wustl.edu 37 11 695769 695769 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 695769 695769 G C SNP TMEM80 ENST00000397510 human ensembl 70_37 +1 known missense c.17 p.R6P 0.009 NULL pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC TRAK1 22906 genome.wustl.edu 37 3 42251577 42251578 + In_Frame_Ins INS - - GGA TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 42251577 42251578 - GGA INS TRAK1 ENST00000341421 human ensembl 70_37 +1 known in_frame_ins c.1889_1890 p.634in_frame_insE 0.010:0.044 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38151132 38151132 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 22 38151132 38151132 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.5512 p.D1838N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TTN 7273 genome.wustl.edu 37 2 179430904 179430904 + Frame_Shift_Del DEL T T - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 179430904 179430904 T - DEL TTN ENST00000342992 human ensembl 70_37 -1 known frame_shift_del c.72251 p.N24084fs 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 TTN 7273 genome.wustl.edu 37 2 179584117 179584117 + Silent SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 179584117 179584117 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.20268 p.A6756 0.002 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 WRN 7486 genome.wustl.edu 37 8 30969312 30969312 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 8 30969312 30969312 C G SNP WRN ENST00000298139 human ensembl 70_37 +1 known missense c.2270 p.T757R 0.884 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 710972 710973 + RNA DEL GA GA - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 5 710972 710973 GA - DEL ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.714:0.115 - - - no_errors ZDHHC11B HGNC ZFP28 140612 genome.wustl.edu 37 19 57065086 57065086 + Missense_Mutation SNP T T G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 57065086 57065086 T G SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known missense c.932 p.F311C 0.028 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ZNF277 11179 genome.wustl.edu 37 7 111846792 111846792 + Frame_Shift_Del DEL G G - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 7 111846792 111846792 G - DEL ZNF277 ENST00000361822 human ensembl 70_37 +1 known frame_shift_del c.21 p.A9fs 0.920 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ZNF595 152687 genome.wustl.edu 37 4 60294 60294 + Nonstop_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 60294 60294 T C SNP ZNF595 ENST00000526473 human ensembl 70_37 +1 known nonstop c.277 p.*93Q 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF595 HGNC ZNF702P 79986 genome.wustl.edu 37 19 53473389 53473389 + RNA SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 53473389 53473389 T C SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 0.155 - - - no_errors ZNF702P HGNC ZRANB2 9406 genome.wustl.edu 37 1 71535038 71535038 + Missense_Mutation SNP A A C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 71535038 71535038 A C SNP ZRANB2 ENST00000370920 human ensembl 70_37 -1 known missense c.691 p.S231A 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC