Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCB10 0 genome.wustl.edu 37 1 229685137 229685137 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 229685137 229685137 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.562 p.A188T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 tier1 - - 26 0 0.00 17 7 29.17 ABCD3 0 genome.wustl.edu 37 1 94982784 94982785 + RNA INS - - A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 94982784 94982785 - A INS ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.274:0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 tier1 27 0 0.00 18 3 14.29 ACAN 0 genome.wustl.edu 37 15 89400524 89400524 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 15 89400524 89400524 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.4708 p.P1570S 0.393 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_Sushi_SCR_CCP,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_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 94 0 0.00 70 11 13.58 ACVR2A 0 genome.wustl.edu 37 2 148602753 148602753 + Missense_Mutation SNP T T A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 148602753 148602753 T A SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known missense c.32 p.V11D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 - - 73 0 0.00 66 18 21.43 ADAM17 0 genome.wustl.edu 37 2 9663399 9663399 + Silent SNP G G C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 9663399 9663399 G C SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known silent c.822 p.G274 0.933 pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 - - 94 0 0.00 112 16 12.50 AMD1 0 genome.wustl.edu 37 6 111213629 111213629 + Missense_Mutation SNP G G C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 6 111213629 111213629 G C SNP AMD1 ENST00000368885 human ensembl 74_37 +1 known missense c.598 p.A200P 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 tier1 - - 100 0 0.00 66 15 18.52 AMER2 0 genome.wustl.edu 37 13 25744090 25744091 + Frame_Shift_Del DEL AT AT - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 13 25744090 25744091 AT - DEL AMER2 ENST00000515384 human ensembl 74_37 -1 known frame_shift_del c.1668_1667 p.Y556fs 0.926:0.994 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 tier1 60 0 0.00 41 4 8.89 AMER2 0 genome.wustl.edu 37 13 25744091 25744091 + Missense_Mutation SNP T T G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 13 25744091 25744091 T G SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.1667 p.Y556S 0.994 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 tier1 - - 59 0 0.00 36 5 12.20 ARHGAP36 0 genome.wustl.edu 37 X 130219900 130219900 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 X 130219900 130219900 G A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.1118 p.R373H 0.996 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 131 0 0.00 52 120 69.77 ARHGEF11 0 genome.wustl.edu 37 1 156914897 156914898 + Frame_Shift_Del DEL TC TC - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 156914897 156914898 TC - DEL ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known frame_shift_del c.2905_2904 p.N969fs 1.000:1.000 superfamily_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 134 0 0.00 101 39 27.86 ASB10 0 genome.wustl.edu 37 7 150878216 150878216 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 150878216 150878216 C T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1049 p.G350D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 tier1 - - 42 0 0.00 17 15 45.45 BTBD3 0 genome.wustl.edu 37 20 11898962 11898964 + In_Frame_Del DEL CTT CTT - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 20 11898962 11898964 CTT - DEL BTBD3 ENST00000378226 human ensembl 74_37 +1 known in_frame_del c.39_41 p.F15in_frame_del 1.000:1.000:1.000 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 tier1 254 0 0.00 221 68 23.53 BTN3A3 0 genome.wustl.edu 37 6 26444340 26444340 + Missense_Mutation SNP G G C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 6 26444340 26444340 G C SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known missense c.241 p.D81H 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 tier1 - - 110 0 0.00 80 24 23.08 C1orf186 0 genome.wustl.edu 37 1 206239537 206239537 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 206239537 206239537 G A SNP C1orf186 ENST00000331555 human ensembl 74_37 -1 novel missense c.361 p.P121S 0.000 NULL NULL - no_errors C1orf186 HGNC ENSG00000196533 tier1 - - 49 0 0.00 60 5 7.69 CALD1 0 genome.wustl.edu 37 7 134632475 134632475 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 134632475 134632475 G A SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known silent c.1062 p.E354 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 tier1 - - 21 0 0.00 8 9 52.94 CCDC13 0 genome.wustl.edu 37 3 42798565 42798565 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 3 42798565 42798565 G A SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known silent c.363 p.A121 0.999 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 tier1 - - 76 0 0.00 71 25 26.04 CCKBR 0 genome.wustl.edu 37 11 6291461 6291461 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 6291461 6291461 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.547 p.G183R 0.030 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 46 0 0.00 27 13 32.50 CCT6B 0 genome.wustl.edu 37 17 33258013 33258013 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 33258013 33258013 C T SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known missense c.1405 p.E469K 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 tier1 - - 83 0 0.00 95 21 18.10 CDKN2A 0 genome.wustl.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 9 21971120 21971120 G A SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known nonsense c.238 p.R80* 0.990 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 rs121913388 - 20 0 0.00 4 12 75.00 CNTN6 0 genome.wustl.edu 37 3 1415615 1415615 + Missense_Mutation SNP A A T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 3 1415615 1415615 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.1953 p.E651D 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 113 0 0.00 75 12 13.79 CNTNAP4 0 genome.wustl.edu 37 16 76569471 76569471 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 16 76569471 76569471 C T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.2782 p.L928 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 78 0 0.00 57 20 25.97 COL11A1 0 genome.wustl.edu 37 1 103380319 103380319 + Missense_Mutation SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 103380319 103380319 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.3901 p.A1301S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 21 0 0.00 10 6 37.50 CREBBP 0 genome.wustl.edu 37 16 3781862 3781862 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 16 3781862 3781862 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4805 p.R1602H 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 95 0 0.00 99 19 16.10 CSMD2 0 genome.wustl.edu 37 1 33998789 33998789 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 33998789 33998789 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.10032 p.N3344 0.984 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 18 0 0.00 11 7 38.89 CTDSPL 0 genome.wustl.edu 37 3 38012952 38012952 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 3 38012952 38012952 C T SNP CTDSPL ENST00000273179 human ensembl 74_37 +1 known missense c.481 p.L161F 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL HGNC ENSG00000144677 42 0 0.00 33 4 10.81 CYP7B1 0 genome.wustl.edu 37 8 65527756 65527756 + Missense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 8 65527756 65527756 G T SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.884 p.A295E 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 tier1 - - 34 0 0.00 28 16 35.56 DLEU7 0 genome.wustl.edu 37 13 51417425 51417425 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 13 51417425 51417425 C T SNP DLEU7 ENST00000504404 human ensembl 74_37 -1 known missense c.358 p.A120T 0.995 NULL NULL - no_errors DLEU7 HGNC ENSG00000186047 tier1 - - 21 0 0.00 16 7 30.43 DNM1P46 0 genome.wustl.edu 37 15 100340362 100340362 + RNA SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 15 100340362 100340362 C T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 26 0 0.00 15 6 28.57 DOCK2 0 genome.wustl.edu 37 5 169474564 169474564 + Silent SNP A A G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 5 169474564 169474564 A G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.4017 p.K1339 0.995 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 86 0 0.00 52 30 36.59 DOT1L 0 genome.wustl.edu 37 19 2226927 2226927 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 2226927 2226927 G A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known silent c.4407 p.P1469 0.078 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 tier1 - - 26 0 0.00 9 7 43.75 EIF1AY 0 genome.wustl.edu 37 Y 22749994 22749994 + RNA DEL A A - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 Y 22749994 22749994 A - DEL EIF1AY ENST00000464196 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors EIF1AY HGNC ENSG00000198692 tier1 9 0 0.00 4 2 33.33 EMILIN3 0 genome.wustl.edu 37 20 39991417 39991417 + Silent SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 20 39991417 39991417 G T SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known silent c.792 p.T264 1.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 tier1 - - 70 0 0.00 40 22 35.48 ENSG00000254815 0 genome.wustl.edu 37 11 558078 558078 + RNA SNP T T C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 558078 558078 T C SNP ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 tier1 - - 55 0 0.00 48 14 22.58 EPHA3 0 genome.wustl.edu 37 3 89456459 89456459 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 3 89456459 89456459 C T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.1635 p.I545 0.003 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 rs200724434 - 43 0 0.00 59 16 21.33 ERCC3 0 genome.wustl.edu 37 2 128051230 128051230 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 128051230 128051230 C T SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known silent c.93 p.G31 0.687 NULL pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 tier1 - - 69 0 0.00 63 7 10.00 EVPL 0 genome.wustl.edu 37 17 74006588 74006588 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 74006588 74006588 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.2698 p.A900T 0.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 37 0 0.00 32 9 21.95 EYA4 0 genome.wustl.edu 37 6 133789787 133789787 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 6 133789787 133789787 G A SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known silent c.888 p.S296 0.684 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 66 0 0.00 58 18 23.68 EZH1 0 genome.wustl.edu 37 17 40872369 40872369 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 40872369 40872369 C T SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known missense c.586 p.D196N 0.947 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 tier1 - - 63 0 0.00 64 24 27.27 FILIP1 0 genome.wustl.edu 37 6 76024397 76024397 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 6 76024397 76024397 C T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.1151 p.R384Q 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 rs147080592 - 177 0 0.00 98 29 22.66 FKBP7 0 genome.wustl.edu 37 2 179343268 179343268 + RNA SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 179343268 179343268 G A SNP FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FKBP7 HGNC ENSG00000079150 tier1 - - 100 0 0.00 143 27 15.88 FLJ20444 0 genome.wustl.edu 37 9 66513587 66513587 + RNA SNP T T G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 9 66513587 66513587 T G SNP FLJ20444 ENST00000586625 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 tier1 rs200425428 - 11 0 0.00 13 9 40.91 FUT10 0 genome.wustl.edu 37 8 33247251 33247251 + Missense_Mutation SNP G G C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 8 33247251 33247251 G C SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.442 p.H148D 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 tier1 - - 118 0 0.00 59 42 41.58 GPR141 0 genome.wustl.edu 37 7 37780483 37780483 + Missense_Mutation SNP A A G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 37780483 37780483 A G SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known missense c.488 p.E163G 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 tier1 - - 75 0 0.00 85 29 25.44 GTF3C3 0 genome.wustl.edu 37 2 197639839 197639839 + Splice_Site SNP C C G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 197639839 197639839 C G SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known splice_site c.1831+1 e13+1 1.000 - - - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 56 0 0.00 39 15 27.78 H1FX-AS1 0 genome.wustl.edu 37 3 129042828 129042828 + RNA SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 3 129042828 129042828 C T SNP H1FX-AS1 ENST00000502789 human ensembl 74_37 +1 known rna NULL NULL 0.242 - - - no_errors H1FX-AS1 HGNC ENSG00000206417 tier1 - - 24 0 0.00 18 8 29.63 HIST1H4L 0 genome.wustl.edu 37 6 27841205 27841205 + Missense_Mutation SNP C C G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 6 27841205 27841205 C G SNP HIST1H4L ENST00000355981 human ensembl 74_37 -1 known missense c.84 p.Q28H 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4L HGNC ENSG00000198558 tier1 - - 55 0 0.00 48 6 11.11 HMX2 0 genome.wustl.edu 37 10 124908149 124908149 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 10 124908149 124908149 T - DEL HMX2 ENST00000339992 human ensembl 74_37 +1 known frame_shift_del c.255 p.P87fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 tier1 51 0 0.00 35 2 5.41 HOXB7 0 genome.wustl.edu 37 17 46688089 46688090 + Frame_Shift_Ins INS - - C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 46688089 46688090 - C INS HOXB7 ENST00000239165 human ensembl 74_37 -1 known frame_shift_ins c.192_191 p.M65fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 tier1 21 0 0.00 18 3 14.29 HPSE2 0 genome.wustl.edu 37 10 100481499 100481499 + Missense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 10 100481499 100481499 G T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.871 p.Q291K 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 tier1 - - 115 0 0.00 101 34 25.19 HS6ST1 0 genome.wustl.edu 37 2 129025965 129025965 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 129025965 129025965 C T SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.1007 p.R336H 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 - - 48 0 0.00 43 27 38.57 HS6ST1 0 genome.wustl.edu 37 2 129075939 129075939 + Nonsense_Mutation SNP T T A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 129075939 129075939 T A SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known nonsense c.199 p.K67* 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 rs202247387 - 45 0 0.00 44 5 10.20 IRGC 0 genome.wustl.edu 37 19 44223140 44223140 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 44223140 44223140 C T SNP IRGC ENST00000244314 human ensembl 74_37 +1 known missense c.430 p.R144C 0.862 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 tier1 - - 23 0 0.00 9 10 52.63 ITFG1 0 genome.wustl.edu 37 16 47494837 47494837 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 16 47494837 47494837 C T SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known silent c.120 p.E40 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 tier1 - - 33 0 0.00 22 7 24.14 ITGAL 0 genome.wustl.edu 37 16 30485517 30485517 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 16 30485517 30485517 C T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.62 p.A21V 0.001 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 10 0 0.00 10 5 33.33 KHK 0 genome.wustl.edu 37 2 27317348 27317348 + Silent SNP T T C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 27317348 27317348 T C SNP KHK ENST00000260599 human ensembl 74_37 +1 known silent c.213 p.F71 1.000 pfam_PfkB_dom pfam_PfkB_dom - no_errors KHK HGNC ENSG00000138030 tier1 - - 103 0 0.00 74 36 32.43 KIAA0907 0 genome.wustl.edu 37 1 155903495 155903497 + In_Frame_Del DEL CAG CAG - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 155903495 155903497 CAG - DEL KIAA0907 ENST00000368321 human ensembl 74_37 -1 known in_frame_del c.184_182 p.A61in_frame_del 1.000:0.057:0.997 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 tier1 33 0 0.00 36 2 5.26 KMT2A 0 genome.wustl.edu 37 11 118352737 118352737 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 118352737 118352737 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.3942 p.P1314 0.005 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 41 0 0.00 32 9 21.95 KNDC1 0 genome.wustl.edu 37 10 135025189 135025189 + Frame_Shift_Del DEL C C - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 10 135025189 135025189 C - DEL KNDC1 ENST00000368572 human ensembl 74_37 +1 known frame_shift_del c.4069 p.L1358fs 0.996 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 51 0 0.00 33 12 26.67 KRT38 0 genome.wustl.edu 37 17 39595484 39595484 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 39595484 39595484 G A SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known nonsense c.703 p.Q235* 0.996 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 34 0 0.00 30 6 16.67 LDHA 0 genome.wustl.edu 37 11 18427050 18427051 + Frame_Shift_Del DEL TG TG - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 18427050 18427051 TG - DEL LDHA ENST00000540430 human ensembl 74_37 +1 known frame_shift_del c.852_853 p.V285fs 0.999:1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 tier1 93 0 0.00 74 13 14.94 LILRP2 0 genome.wustl.edu 37 19 55221420 55221420 + RNA SNP C C G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 55221420 55221420 C G SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors LILRP2 HGNC ENSG00000170858 tier1 - - 25 0 0.00 35 10 22.22 LOC101927905 0 genome.wustl.edu 37 12 8388252 8388252 + RNA SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 12 8388252 8388252 C T SNP LOC101927905 ENST00000304751 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors RP11-266K4.9 Clone_based_vega_gene ENSG00000215241 tier1 - - 38 0 0.00 7 20 74.07 LOC284100 0 genome.wustl.edu 37 17 36233832 36233832 + RNA SNP T T A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 36233832 36233832 T A SNP LOC284100 ENST00000590732 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-115K3.2 Clone_based_vega_gene ENSG00000267671 tier1 - - 29 0 0.00 23 19 45.24 LRIG2 0 genome.wustl.edu 37 1 113657114 113657114 + Missense_Mutation SNP C C G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 113657114 113657114 C G SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.2146 p.Q716E 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 tier1 - - 59 0 0.00 28 23 45.10 LRIT1 0 genome.wustl.edu 37 10 85991841 85991841 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 10 85991841 85991841 C T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.1714 p.V572I 0.880 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 tier1 - - 41 0 0.00 20 5 20.00 LRP1B 0 genome.wustl.edu 37 2 141739804 141739804 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 141739804 141739804 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2812 p.R938C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 57 0 0.00 36 17 31.48 LRP5 0 genome.wustl.edu 37 11 68201222 68201222 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 68201222 68201222 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3916 p.A1306T 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 110 0 0.00 82 19 18.81 LRRK2 0 genome.wustl.edu 37 12 40699585 40699585 + Splice_Site SNP A A C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 12 40699585 40699585 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known splice_site c.3778-2 e28-2 1.000 - - - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 75 0 0.00 38 32 45.71 MAGI2 0 genome.wustl.edu 37 7 77885755 77885755 + Missense_Mutation SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 77885755 77885755 C A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.1552 p.D518Y 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 30 0 0.00 33 5 13.16 MAMDC4 0 genome.wustl.edu 37 9 139751427 139751427 + Frame_Shift_Del DEL C C - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 9 139751427 139751427 C - DEL MAMDC4 ENST00000445819 human ensembl 74_37 +1 known frame_shift_del c.2143 p.Q716fs 0.015 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 tier1 35 0 0.00 36 2 5.26 MAP1A 0 genome.wustl.edu 37 15 43816012 43816013 + In_Frame_Ins INS - - GTA TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 15 43816012 43816013 - GTA INS MAP1A ENST00000399453 human ensembl 74_37 +1 known in_frame_ins c.2341_2342 p.A781in_frame_insGT 0.995:0.998 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 36 0 0.00 15 5 25.00 MDGA2 0 genome.wustl.edu 37 14 47389232 47389232 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 14 47389232 47389232 G A SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2221 p.R741W 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 46 0 0.00 34 8 19.05 MED13L 0 genome.wustl.edu 37 12 116457089 116457089 + Missense_Mutation SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 12 116457089 116457089 C A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.949 p.D317Y 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 43 0 0.00 21 18 46.15 MIPEP 0 genome.wustl.edu 37 13 24411894 24411894 + Missense_Mutation SNP T T C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 13 24411894 24411894 T C SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.1340 p.D447G 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 tier1 - - 87 0 0.00 80 24 23.08 MKI67 0 genome.wustl.edu 37 10 129913474 129913474 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 10 129913474 129913474 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known nonsense c.1198 p.R400* 0.001 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 rs142132992 - 155 0 0.00 118 34 22.37 MRC2 0 genome.wustl.edu 37 17 60755974 60755974 + Missense_Mutation SNP A A G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 60755974 60755974 A G SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.2162 p.H721R 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 35 0 0.00 23 8 25.81 MRGBP 0 genome.wustl.edu 37 20 61430981 61430981 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 20 61430981 61430981 C T SNP MRGBP ENST00000370487 human ensembl 74_37 +1 known missense c.601 p.R201W 1.000 NULL pfam_Eaf7/MRGBP - no_errors MRGBP HGNC ENSG00000101189 tier1 - - 66 0 0.00 50 10 16.67 MROH2B 0 genome.wustl.edu 37 5 41058242 41058242 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 5 41058242 41058242 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.679 p.R227C 0.171 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 19 0 0.00 49 16 24.62 MRPL44 0 genome.wustl.edu 37 2 224828559 224828559 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 224828559 224828559 G - DEL MRPL44 ENST00000258383 human ensembl 74_37 +1 known frame_shift_del c.735 p.K246fs 1.000 pfscan_dsRNA-bd_dom superfamily_RNase_III_dom,pfscan_dsRNA-bd_dom - no_errors MRPL44 HGNC ENSG00000135900 tier1 73 0 0.00 91 21 18.75 MS4A13 0 genome.wustl.edu 37 11 60292797 60292797 + Missense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 60292797 60292797 G T SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known missense c.304 p.A102S 1.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 tier1 - - 77 0 0.00 44 28 38.89 MUC16 0 genome.wustl.edu 37 19 9083304 9083304 + Silent SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 9083304 9083304 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.8511 p.L2837 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 26 0 0.00 7 13 65.00 MUC17 0 genome.wustl.edu 37 7 100686436 100686436 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 100686436 100686436 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.11739 p.A3913 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 114 0 0.00 115 18 13.53 NAA11 0 genome.wustl.edu 37 4 80246785 80246785 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 4 80246785 80246785 G A SNP NAA11 ENST00000286794 human ensembl 74_37 -1 known missense c.247 p.R83C 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 tier1 - - 65 0 0.00 51 15 22.73 NACA2 0 genome.wustl.edu 37 17 59667899 59667899 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 59667899 59667899 C T SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known missense c.643 p.V215M 0.097 pirsf_EGD2/NACA pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 tier1 - - 138 0 0.00 182 15 7.61 NACA2 0 genome.wustl.edu 37 17 59667948 59667948 + Silent SNP A A G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 59667948 59667948 A G SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known silent c.594 p.A198 0.999 superfamily_UBA-like,pirsf_EGD2/NACA pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 tier1 - - 184 0 0.00 175 15 7.89 NBPF1 0 genome.wustl.edu 37 1 16905823 16905823 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 16905823 16905823 C T SNP NBPF1 ENST00000432949 human ensembl 74_37 -1 known missense c.40 p.E14K 0.019 NULL pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 tier1 - - 43 0 0.00 30 3 9.09 NKPD1 0 genome.wustl.edu 37 19 45656074 45656074 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 45656074 45656074 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known silent c.1621 p.L541 1.000 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 8 0 0.00 15 7 31.82 NMRK1 0 genome.wustl.edu 37 9 77683990 77683990 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 9 77683990 77683990 G A SNP NMRK1 ENST00000361092 human ensembl 74_37 -1 known missense c.418 p.P140S 0.998 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors NMRK1 HGNC ENSG00000106733 tier1 - - 66 0 0.00 55 25 31.25 NUP214 0 genome.wustl.edu 37 9 134021655 134021655 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 9 134021655 134021655 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1909 p.V637M 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 tier1 - - 206 0 0.00 150 102 40.32 OR2F2 0 genome.wustl.edu 37 7 143632834 143632834 + Missense_Mutation SNP C C G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 143632834 143632834 C G SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.509 p.T170S 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 71 0 0.00 29 10 25.64 OR2F2 0 genome.wustl.edu 37 7 143632835 143632835 + Silent SNP T T A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 143632835 143632835 T A SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known silent c.510 p.T170 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 72 0 0.00 29 10 25.64 OR4C16 0 genome.wustl.edu 37 11 55340006 55340006 + Missense_Mutation SNP A A C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 55340006 55340006 A C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.403 p.S135R 0.130 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 160 0 0.00 125 29 18.83 OR51B6 0 genome.wustl.edu 37 11 5373582 5373582 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 5373582 5373582 C T SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.845 p.P282L 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 tier1 - - 99 0 0.00 87 16 15.53 ORC5 0 genome.wustl.edu 37 7 103848369 103848369 + RNA SNP G G C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 103848369 103848369 G C SNP ORC5 ENST00000485726 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ORC5 HGNC ENSG00000164815 tier1 - - 29 0 0.00 6 59 9.92 OSBPL5 0 genome.wustl.edu 37 11 3111809 3111809 + Missense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 3111809 3111809 G T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.2377 p.Q793K 0.695 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 tier1 - - 64 0 0.00 39 10 20.41 OVCH2 0 genome.wustl.edu 37 11 7725334 7725334 + Silent SNP T T C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 7725334 7725334 T C SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known silent c.201 p.V67 0.998 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 tier1 - - 15 0 0.00 15 4 21.05 PAK1IP1 0 genome.wustl.edu 37 6 10697691 10697691 + Missense_Mutation SNP T T G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 6 10697691 10697691 T G SNP PAK1IP1 ENST00000379568 human ensembl 74_37 +1 known missense c.219 p.I73M 0.228 superfamily_WD40_repeat_dom,smart_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 PAK1IP1 HGNC ENSG00000111845 tier1 - - 70 0 0.00 63 18 21.95 PCDHA3 0 genome.wustl.edu 37 5 140181070 140181070 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 5 140181070 140181070 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.288 p.C96 0.979 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 227 0 0.00 222 49 18.01 PCLO 0 genome.wustl.edu 37 7 82585440 82585440 + Missense_Mutation SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 82585440 82585440 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4829 p.R1610L 0.878 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 196 0 0.00 212 69 24.56 PDE9A 0 genome.wustl.edu 37 21 44188344 44188344 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 21 44188344 44188344 G A SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.1403 p.R468H 0.994 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 tier1 - - 41 0 0.00 32 20 38.46 PPP1R12C 0 genome.wustl.edu 37 19 55623852 55623852 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 55623852 55623852 G A SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known missense c.554 p.A185V 0.015 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 tier1 - - 36 0 0.00 21 10 30.30 PRICKLE3 0 genome.wustl.edu 37 X 49033350 49033350 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 X 49033350 49033350 G - DEL PRICKLE3 ENST00000376317 human ensembl 74_37 -1 known frame_shift_del c.1157 p.P386fs 0.027 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 tier1 25 0 0.00 15 9 37.50 PRKACG 0 genome.wustl.edu 37 9 71628963 71628963 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 9 71628963 71628963 C T SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known missense c.46 p.V16M 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 tier1 - - 48 0 0.00 50 11 18.03 PRKCI 0 genome.wustl.edu 37 3 170011281 170011281 + Missense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 3 170011281 170011281 G T SNP PRKCI ENST00000295797 human ensembl 74_37 +1 known missense c.1402 p.D468Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 tier1 - - 97 0 0.00 73 12 14.12 PZP 0 genome.wustl.edu 37 12 9345298 9345298 + Nonsense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 12 9345298 9345298 G T SNP PZP ENST00000261336 human ensembl 74_37 -1 known nonsense c.1292 p.S431* 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 84 0 0.00 33 31 48.44 RHOXF2 0 genome.wustl.edu 37 X 119293306 119293306 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 X 119293306 119293306 C T SNP RHOXF2 ENST00000371388 human ensembl 74_37 +1 known silent c.465 p.R155 0.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 tier1 - - 20 0 0.00 18 11 37.93 RP1L1 0 genome.wustl.edu 37 8 10470341 10470341 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 8 10470341 10470341 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1267 p.R423W 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 63 0 0.00 61 534 89.75 SDK1 0 genome.wustl.edu 37 7 3658797 3658797 + Silent SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 3658797 3658797 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.384 p.A128 0.002 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 27 0 0.00 22 12 35.29 SLC12A9 0 genome.wustl.edu 37 7 100457596 100457596 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 100457596 100457596 C T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.1067 p.S356L 0.999 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 tier1 - - 83 0 0.00 42 59 58.42 SLC39A8 0 genome.wustl.edu 37 4 103184242 103184242 + Missense_Mutation SNP G G C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 4 103184242 103184242 G C SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known missense c.1342 p.L448V 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 tier1 - - 94 0 0.00 68 12 14.81 SMG5 0 genome.wustl.edu 37 1 156220712 156220712 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 156220712 156220712 G A SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known silent c.2904 p.G968 1.000 smart_PIN_dom pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 tier1 - - 41 0 0.00 47 20 29.41 SNHG14 0 genome.wustl.edu 37 15 25326248 25326248 + RNA SNP T T C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 15 25326248 25326248 T C SNP SNHG14 ENST00000383025 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 15 0 0.00 3 5 62.50 SYF2 0 genome.wustl.edu 37 1 25558879 25558879 + RNA SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 25558879 25558879 C A SNP SYF2 ENST00000474160 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SYF2 HGNC ENSG00000117614 tier1 - - 24 0 0.00 17 20 54.05 SYT9 0 genome.wustl.edu 37 11 7324553 7324553 + Silent SNP G G C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 7324553 7324553 G C SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.429 p.G143 0.008 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 tier1 - - 24 0 0.00 28 8 22.22 TDRP 0 genome.wustl.edu 37 8 442692 442692 + Missense_Mutation SNP A A C TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 8 442692 442692 A C SNP TDRP ENST00000427263 human ensembl 74_37 -1 known missense c.265 p.W89G 1.000 NULL NULL - no_errors TDRP HGNC ENSG00000180190 tier1 - - 143 0 0.00 75 43 36.44 TM9SF3 0 genome.wustl.edu 37 10 98292920 98292921 + Frame_Shift_Ins INS - - A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 10 98292920 98292921 - A INS TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_ins c.1213_1212 p.V404fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 tier1 50 0 0.00 35 12 25.53 TNRC18 0 genome.wustl.edu 37 7 5410472 5410472 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 5410472 5410472 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.3753 p.P1251 0.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 26 0 0.00 20 2 9.09 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934574 - 23 0 0.00 13 11 45.83 TRPC6 0 genome.wustl.edu 37 11 101342970 101342970 + Missense_Mutation SNP T T G TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 11 101342970 101342970 T G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.2103 p.E701D 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 169 0 0.00 148 36 19.46 TTN 0 genome.wustl.edu 37 2 179574385 179574385 + Missense_Mutation SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 179574385 179574385 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.24929 p.R8310M 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 108 0 0.00 76 42 35.59 USH2A 0 genome.wustl.edu 37 1 215901379 215901379 + Missense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 1 215901379 215901379 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.12059 p.T4020K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 120 0 0.00 72 54 42.86 VCX2 0 genome.wustl.edu 37 X 8138169 8138169 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 X 8138169 8138169 G A SNP VCX2 ENST00000317103 human ensembl 74_37 -1 known silent c.324 p.S108 0.004 NULL NULL - no_errors VCX2 HGNC ENSG00000177504 tier1 rs200914527 - 39 0 0.00 33 47 58.75 VRK2 0 genome.wustl.edu 37 2 58366853 58366853 + Missense_Mutation SNP G G T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 2 58366853 58366853 G T SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known missense c.909 p.K303N 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 tier1 - - 75 0 0.00 109 12 9.92 WRAP53 0 genome.wustl.edu 37 17 7605044 7605047 + Frame_Shift_Del DEL CGGA CGGA - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 CGGA CGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 17 7605044 7605047 CGGA - DEL WRAP53 ENST00000316024 human ensembl 74_37 +1 known frame_shift_del c.892_895 p.R298fs 1.000:1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 64 0 0.00 43 10 18.87 ZMYND19 0 genome.wustl.edu 37 9 140482050 140482050 + RNA SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 9 140482050 140482050 G A SNP ZMYND19 ENST00000471957 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMYND19 HGNC ENSG00000165724 tier1 - - 28 0 0.00 20 9 31.03 ZNF397 0 genome.wustl.edu 37 18 32822843 32822843 + Missense_Mutation SNP C C A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 18 32822843 32822843 C A SNP ZNF397 ENST00000330501 human ensembl 74_37 +1 known missense c.409 p.Q137K 0.331 pfam_Tscrpt_reg_SCAN,smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 tier1 - - 62 0 0.00 25 11 30.56 ZNF416 0 genome.wustl.edu 37 19 58084398 58084400 + In_Frame_Del DEL GGA GGA - TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 58084398 58084400 GGA 0 DEL ZNF416 ENST00000196489 human ensembl 74_37 -1 known in_frame_del c.874_872 p.IH291in_frame_delN 0.974:0.031:0.030 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF416 HGNC ENSG00000083817 71 0 0.00 105 17 13.93 ZNF416 0 genome.wustl.edu 37 19 58084406 58084406 + Missense_Mutation SNP C C T TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 58084406 58084406 C T SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.866 p.R289Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF416 HGNC ENSG00000083817 74 0 0.00 110 21 16.03 ZNF518A 0 genome.wustl.edu 37 10 97918855 97918856 + RNA INS - - A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 10 97918855 97918856 - A INS ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 55 0 0.00 38 4 9.52 ZNF570 0 genome.wustl.edu 37 19 37975121 37975122 + Frame_Shift_Ins INS - - A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 37975121 37975122 - A INS ZNF570 ENST00000330173 human ensembl 74_37 +1 known frame_shift_ins c.597_598 p.N201fs 0.003:0.002 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 ZNF570 HGNC ENSG00000171827 tier1 189 0 0.00 130 64 32.99 ZNF671 0 genome.wustl.edu 37 19 58232422 58232422 + Silent SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 19 58232422 58232422 G A SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known silent c.1032 p.S344 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF671 HGNC ENSG00000083814 tier1 - - 86 0 0.00 142 34 19.32 ZNF862 0 genome.wustl.edu 37 7 149545076 149545076 + Missense_Mutation SNP G G A TCGA-VQ-AA6I-01A-11D-A410-08 TCGA-VQ-AA6I-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffdc928-21ba-466c-b9a4-700f2015fb0d 7f65b783-4130-4b39-9a9c-aaf5a166e2f6 7 149545076 149545076 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.494 p.R165Q 0.997 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 tier1 - - 21 0 0.00 17 6 26.09