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 ABCA5 23461 genome.wustl.edu 37 17 67309320 67309320 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 67309320 67309320 G C SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.220 p.L74V 0.008 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ABCA9 10350 genome.wustl.edu 37 17 67023208 67023208 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 67023208 67023208 C A SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known missense c.1959 p.R653S 0.972 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ABCA9 10350 genome.wustl.edu 37 17 67039792 67039792 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 67039792 67039792 A T SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known nonsense c.638 p.L213* 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ABCB1 5243 genome.wustl.edu 37 7 87179273 87179273 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 87179273 87179273 G A SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.1448 p.T483M 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ABCC13 150000 genome.wustl.edu 37 21 15689804 15689804 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 15689804 15689804 T C SNP ABCC13 ENST00000482980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ABCC13 HGNC ABCD1 215 genome.wustl.edu 37 X 152994963 152994963 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 152994963 152994963 G A SNP ABCD1 ENST00000370129 human ensembl 70_37 +1 known missense c.622 p.A208T 0.000 NULL pfam_ABC_Ald_N - no_errors ABCD1 HGNC ABCD3 5825 genome.wustl.edu 37 1 94984053 94984055 + RNA DEL AAA AAA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 94984053 94984055 AAA - DEL ABCD3 ENST00000484213 human ensembl 70_37 +1 known rna NULL NULL 0.959:0.972:0.991 - - - no_errors ABCD3 HGNC ABCF2 10061 genome.wustl.edu 37 7 150920871 150920871 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150920871 150920871 C G SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known missense c.615 p.E205D 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC AOC1 26 genome.wustl.edu 37 7 150558235 150558235 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150558235 150558235 G C SNP ABP1 ENST00000416793 human ensembl 70_37 +1 known missense c.2251 p.E751Q 0.996 superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ACCSL 390110 genome.wustl.edu 37 11 44077812 44077812 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 44077812 44077812 T C SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known silent c.1263 p.F421 0.962 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors ACCSL HGNC ACOX3 8310 genome.wustl.edu 37 4 8417621 8417621 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 8417621 8417621 G A SNP ACOX3 ENST00000356406 human ensembl 70_37 -1 known missense c.250 p.R84W 0.001 superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ACSL4 2182 genome.wustl.edu 37 X 108911444 108911444 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 108911444 108911444 C A SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known nonsense c.1324 p.G442* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ACSM2B 348158 genome.wustl.edu 37 16 20548681 20548681 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 20548681 20548681 C G SNP ACSM2B ENST00000329697 human ensembl 70_37 -1 known missense c.1633 p.E545Q 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ACSS1 84532 genome.wustl.edu 37 20 24994643 24994643 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 24994643 24994643 G A SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known missense c.1406 p.A469V 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ACTA1 58 genome.wustl.edu 37 1 229567610 229567610 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 229567610 229567610 C T SNP ACTA1 ENST00000366684 human ensembl 70_37 -1 known missense c.848 p.S283N 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ACTL7B 10880 genome.wustl.edu 37 9 111617807 111617807 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 111617807 111617807 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.404 p.R135H 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ACVR1C 130399 genome.wustl.edu 37 2 158395204 158395204 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 158395204 158395204 C T SNP ACVR1C ENST00000243349 human ensembl 70_37 -1 known missense c.1237 p.E413K 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ACY1 95 genome.wustl.edu 37 3 52021613 52021613 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 52021613 52021613 C T SNP ACY1 ENST00000458031 human ensembl 70_37 +1 known silent c.1164 p.G388 0.486 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ADAM17 6868 genome.wustl.edu 37 2 9637283 9637283 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 9637283 9637283 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known silent c.1743 p.F581 1.000 NULL 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 ADAMTS12 81792 genome.wustl.edu 37 5 33527413 33527413 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 33527413 33527413 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.4665 p.M1555I 1.000 pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADAMTS13 11093 genome.wustl.edu 37 9 136310925 136310925 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 136310925 136310925 G A SNP ADAMTS13 ENST00000371929 human ensembl 70_37 +1 known missense c.2716 p.V906I 0.975 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ADAMTS19 171019 genome.wustl.edu 37 5 129037112 129037112 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 129037112 129037112 C T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known nonsense c.2968 p.R990* 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43771178 43771178 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 43771178 43771178 T G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.4985 p.K1662T 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43824240 43824240 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 43824240 43824240 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.3296 p.R1099Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18776791 18776791 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 18776791 18776791 C T SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel missense c.2564 p.P855L 0.711 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADCK3 56997 genome.wustl.edu 37 1 227170711 227170711 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 227170711 227170711 C T SNP ADCK3 ENST00000366777 human ensembl 70_37 +1 known silent c.1056 p.G352 0.985 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ADRBK2 157 genome.wustl.edu 37 22 26040572 26040572 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 26040572 26040572 T G SNP ADRBK2 ENST00000324198 human ensembl 70_37 +1 known missense c.204 p.F68L 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC AGAP3 116988 genome.wustl.edu 37 7 150814254 150814254 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150814254 150814254 G C SNP AGAP3 ENST00000397238 human ensembl 70_37 +1 known missense c.463 p.E155Q 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278920 27278920 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 27278920 27278920 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1279 p.V427I 0.994 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGFG1 3267 genome.wustl.edu 37 2 228398274 228398274 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 228398274 228398274 C A SNP AGFG1 ENST00000409979 human ensembl 70_37 +1 known missense c.896 p.A299D 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC AGPAT9 84803 genome.wustl.edu 37 4 84519211 84519211 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 84519211 84519211 C T SNP AGPAT9 ENST00000264409 human ensembl 70_37 +1 known missense c.1004 p.P335L 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC AGT 183 genome.wustl.edu 37 1 230846470 230846470 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 230846470 230846470 G A SNP AGT ENST00000366667 human ensembl 70_37 -1 known missense c.127 p.L43F 0.998 prints_Angiotensngn pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn - no_errors AGT HGNC AHCYL2 23382 genome.wustl.edu 37 7 129029479 129029479 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 129029479 129029479 G A SNP AHCYL2 ENST00000325006 human ensembl 70_37 +1 known missense c.624 p.M208I 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC AHRR 57491 genome.wustl.edu 37 5 434786 434786 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 434786 434786 G A SNP AHRR ENST00000316418 human ensembl 70_37 +1 known missense c.1997 p.C666Y 0.000 NULL pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors AHRR HGNC AIDA 64853 genome.wustl.edu 37 1 222846664 222846664 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 222846664 222846664 A T SNP AIDA ENST00000340020 human ensembl 70_37 -1 known missense c.697 p.L233I 1.000 pfam_AIDA pfam_AIDA,superfamily_AIDA_N - no_errors AIDA HGNC AKAP11 11215 genome.wustl.edu 37 13 42877896 42877896 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 42877896 42877896 G A SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known missense c.5014 p.A1672T 1.000 NULL NULL - no_errors AKAP11 HGNC AKAP12 9590 genome.wustl.edu 37 6 151674287 151674287 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 151674287 151674287 C A SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.4761 p.S1587R 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC AKAP9 10142 genome.wustl.edu 37 7 91631813 91631813 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 91631813 91631813 A T SNP AKAP9 ENST00000359028 human ensembl 70_37 +1 known missense c.2618 p.Y873F 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC AKR1D1 6718 genome.wustl.edu 37 7 137791973 137791973 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 137791973 137791973 G C SNP AKR1D1 ENST00000468877 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors AKR1D1 HGNC ALAD 210 genome.wustl.edu 37 9 116153129 116153129 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 116153129 116153129 G T SNP ALAD ENST00000409155 human ensembl 70_37 -1 known missense c.346 p.L116M 0.995 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ALAS2 212 genome.wustl.edu 37 X 55043940 55043940 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 55043940 55043940 C G SNP ALAS2 ENST00000330807 human ensembl 70_37 -1 known missense c.982 p.E328Q 1.000 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ALDH1A3 220 genome.wustl.edu 37 15 101440802 101440802 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 101440802 101440802 C T SNP ALDH1A3 ENST00000329841 human ensembl 70_37 +1 known silent c.906 p.A302 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ALDH9A1 223 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ALG13 79868 genome.wustl.edu 37 X 110961480 110961480 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 110961480 110961480 T C SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known missense c.916 p.Y306H 0.003 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ALG13 79868 genome.wustl.edu 37 X 110964869 110964869 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 110964869 110964869 G T SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known missense c.1053 p.K351N 1.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ALG6 29929 genome.wustl.edu 37 1 63894697 63894698 + Frame_Shift_Del DEL AA AA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 63894697 63894698 AA - DEL ALG6 ENST00000263440 human ensembl 70_37 +1 known frame_shift_del c.1232_1233 p.K412fs 0.990:0.911 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ALK 238 genome.wustl.edu 37 2 29498346 29498346 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 29498346 29498346 C A SNP ALK ENST00000389048 human ensembl 70_37 -1 known missense c.1834 p.V612F 0.968 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ALKBH8 91801 genome.wustl.edu 37 11 107431560 107431560 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 107431560 107431560 C T SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known silent c.69 p.R23 1.000 pfam_AlkB_hom8_N pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ALPI 248 genome.wustl.edu 37 2 233321089 233321089 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 233321089 233321089 G A SNP ALPI ENST00000295463 human ensembl 70_37 +1 known missense c.98 p.R33H 0.000 superfamily_Alkaline_phosphatase_core pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ALPI 248 genome.wustl.edu 37 2 233321923 233321923 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 233321923 233321923 C A SNP ALPI ENST00000295463 human ensembl 70_37 +1 known missense c.539 p.A180E 0.971 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC AMDHD2 51005 genome.wustl.edu 37 16 2578499 2578499 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2578499 2578499 C T SNP AMDHD2 ENST00000413459 human ensembl 70_37 +1 known silent c.909 p.N303 0.863 pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC AMOT 154796 genome.wustl.edu 37 X 112024238 112024238 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 112024238 112024238 C T SNP AMOT ENST00000371959 human ensembl 70_37 -1 known silent c.2349 p.R783 0.994 pfam_Angiomotin_C pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC AMOT 154796 genome.wustl.edu 37 X 112058694 112058694 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 112058694 112058694 A G SNP AMOT ENST00000371959 human ensembl 70_37 -1 known silent c.1284 p.F428 1.000 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC AMPD2 271 genome.wustl.edu 37 1 110169454 110169454 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 110169454 110169454 G A SNP AMPD2 ENST00000256578 human ensembl 70_37 +1 known missense c.800 p.R267H 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ANGPTL1 9068 genome.wustl.edu 37 1 178822736 178822736 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 178822736 178822736 T G SNP ANGPTL1 ENST00000234816 human ensembl 70_37 -1 known missense c.1010 p.N337T 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ANGPTL5 253935 genome.wustl.edu 37 11 101762304 101762305 + Frame_Shift_Ins INS - - G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 101762304 101762305 - G INS ANGPTL5 ENST00000334289 human ensembl 70_37 -1 known frame_shift_ins c.873_872 p.K291fs 0.998:1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL5 HGNC ANK2 287 genome.wustl.edu 37 4 114275565 114275565 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 114275565 114275565 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.5791 p.G1931R 0.089 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ANKRD13B 124930 genome.wustl.edu 37 17 27940575 27940575 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 27940575 27940575 T A SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known missense c.1856 p.L619Q 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ANKRD17 26057 genome.wustl.edu 37 4 73985919 73985919 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 73985919 73985919 C G SNP ANKRD17 ENST00000358602 human ensembl 70_37 -1 known missense c.3985 p.D1329H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ANKRD36C 400986 genome.wustl.edu 37 2 96549981 96549981 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 96549981 96549981 C T SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known missense c.3205 p.E1069K 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ANKEF1 63926 genome.wustl.edu 37 20 10032317 10032317 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 10032317 10032317 C T SNP ANKRD5 ENST00000378380 human ensembl 70_37 +1 known silent c.1650 p.N550 0.332 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_HAND_2,prints_Ankyrin_rpt - no_errors ANKRD5 HGNC ANKUB1 389161 genome.wustl.edu 37 3 149485802 149485802 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 149485802 149485802 G A SNP ANKUB1 ENST00000446160 human ensembl 70_37 -1 known missense c.647 p.A216V 0.022 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup - no_errors ANKUB1 HGNC ANLN 54443 genome.wustl.edu 37 7 36456741 36456741 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 36456741 36456741 T A SNP ANLN ENST00000265748 human ensembl 70_37 +1 known missense c.1575 p.F525L 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ANO3 63982 genome.wustl.edu 37 11 26484627 26484627 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 26484627 26484627 G C SNP ANO3 ENST00000256737 human ensembl 70_37 +1 known missense c.364 p.D122H 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ANO8 57719 genome.wustl.edu 37 19 17435963 17435963 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 17435963 17435963 C T SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known missense c.2894 p.R965H 1.000 NULL pfam_Anoctamin - no_errors ANO8 HGNC ANTXR2 118429 genome.wustl.edu 37 4 80828578 80828578 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 80828578 80828578 C G SNP ANTXR2 ENST00000482406 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANTXR2 HGNC ANXA13 312 genome.wustl.edu 37 8 124696865 124696865 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 124696865 124696865 G A SNP ANXA13 ENST00000262219 human ensembl 70_37 -1 known silent c.939 p.V313 0.188 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC AOC3 8639 genome.wustl.edu 37 17 41008322 41008322 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 41008322 41008322 C G SNP AOC3 ENST00000308423 human ensembl 70_37 +1 known missense c.2047 p.L683V 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC AP2B1 163 genome.wustl.edu 37 17 33954732 33954732 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 33954732 33954732 C T SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.1142 p.A381V 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC AP4B1 10717 genome.wustl.edu 37 1 114442773 114442773 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 114442773 114442773 G A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known silent c.867 p.S289 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC AP4B1-AS1 100287722 genome.wustl.edu 37 1 114400196 114400196 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 114400196 114400196 A - DEL AP4B1-AS1 ENST00000419536 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AP4B1-AS1 HGNC APH1A 51107 genome.wustl.edu 37 1 150239367 150239367 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 150239367 150239367 C T SNP APH1A ENST00000486308 human ensembl 70_37 -1 known rna NULL NULL 0.504 - - - no_errors APH1A HGNC APH1B 83464 genome.wustl.edu 37 15 63571440 63571440 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 63571440 63571440 G A SNP APH1B ENST00000261879 human ensembl 70_37 +1 known missense c.194 p.G65E 0.059 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC AQPEP 206338 genome.wustl.edu 37 5 115327936 115327936 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 115327936 115327936 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.1222 p.L408 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ARAP2 116984 genome.wustl.edu 37 4 36160435 36160435 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 36160435 36160435 G A SNP ARAP2 ENST00000303965 human ensembl 70_37 -1 known missense c.2669 p.S890F 0.025 pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ARF6 382 genome.wustl.edu 37 14 50360595 50360595 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 50360595 50360595 C T SNP ARF6 ENST00000298316 human ensembl 70_37 +1 known silent c.141 p.F47 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF6 HGNC ARFGAP3 26286 genome.wustl.edu 37 22 43213779 43213780 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 43213779 43213780 - T INS ARFGAP3 ENST00000263245 human ensembl 70_37 -1 known frame_shift_ins c.897_896 p.N299fs 0.000:0.002 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ARFGEF1 10565 genome.wustl.edu 37 8 68130069 68130069 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 68130069 68130069 C T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.4561 p.D1521N 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47592687 47592687 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 47592687 47592687 T G SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.1909 p.F637V 1.000 superfamily_Sec7,superfamily_ARM-type_fold,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARHGAP21 57584 genome.wustl.edu 37 10 24909833 24909833 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 24909833 24909833 G A SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.991 p.H331Y 0.986 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ARHGAP23 57636 genome.wustl.edu 37 17 36654048 36654048 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 36654048 36654048 G A SNP ARHGAP23 ENST00000431231 human ensembl 70_37 +1 known missense c.3298 p.E1100K 0.020 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ARHGAP27 201176 genome.wustl.edu 37 17 43483117 43483117 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 43483117 43483117 G A SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known silent c.990 p.D330 0.998 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ARHGAP28 79822 genome.wustl.edu 37 18 6894870 6894870 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 6894870 6894870 T G SNP ARHGAP28 ENST00000400091 human ensembl 70_37 +1 known missense c.1885 p.S629A 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ARHGAP32 9743 genome.wustl.edu 37 11 128841051 128841051 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 128841051 128841051 G A SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known nonsense c.4015 p.Q1339* 0.118 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ARHGAP33 115703 genome.wustl.edu 37 19 36270768 36270768 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36270768 36270768 G A SNP ARHGAP33 ENST00000221905 human ensembl 70_37 +1 known missense c.616 p.A206T 0.072 NULL pfam_Phox,superfamily_Phox - no_errors ARHGAP33 HGNC ARHGEF15 22899 genome.wustl.edu 37 17 8222168 8222168 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 8222168 8222168 G A SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known missense c.1973 p.R658H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ARHGEF16 27237 genome.wustl.edu 37 1 3389974 3389974 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 3389974 3389974 T C SNP ARHGEF16 ENST00000378378 human ensembl 70_37 +1 known missense c.1193 p.F398S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ARHGEF40 55701 genome.wustl.edu 37 14 21549035 21549035 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21549035 21549035 C T SNP ARHGEF40 ENST00000298694 human ensembl 70_37 +1 known missense c.2500 p.R834C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ARHGEF9 23229 genome.wustl.edu 37 X 62917102 62917102 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 62917102 62917102 A C SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.464 p.I155S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ARID2 196528 genome.wustl.edu 37 12 46245685 46245685 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 46245685 46245685 A G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.3779 p.E1260G 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ARL15 54622 genome.wustl.edu 37 5 53180802 53180803 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 53180802 53180803 - A INS ARL15 ENST00000502271 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.075 - - - no_errors ARL15 HGNC ARL5A 26225 genome.wustl.edu 37 2 152663369 152663369 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 152663369 152663369 G A SNP ARL5A ENST00000295087 human ensembl 70_37 -1 known missense c.457 p.H153Y 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ARMC9 80210 genome.wustl.edu 37 2 232079546 232079546 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 232079546 232079546 G A SNP ARMC9 ENST00000349938 human ensembl 70_37 +1 known silent c.180 p.K60 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ARSK 153642 genome.wustl.edu 37 5 94918715 94918715 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 94918715 94918715 G C SNP ARSK ENST00000380009 human ensembl 70_37 +1 known missense c.512 p.R171T 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ARX 170302 genome.wustl.edu 37 X 25031391 25031391 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 25031391 25031391 C G SNP ARX ENST00000379044 human ensembl 70_37 -1 known missense c.721 p.E241Q 0.999 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_Antifreeze_1 - no_errors ARX HGNC ASB10 136371 genome.wustl.edu 37 7 150878059 150878059 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150878059 150878059 G A SNP ASB10 ENST00000422024 human ensembl 70_37 -1 known silent c.1206 p.G402 0.011 superfamily_Ankyrin_rpt-contain_dom,smart_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 ASB10 136371 genome.wustl.edu 37 7 150883515 150883515 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150883515 150883515 C T SNP ASB10 ENST00000422024 human ensembl 70_37 -1 known missense c.683 p.R228H 0.633 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 ASIC3 9311 genome.wustl.edu 37 7 150749539 150749539 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150749539 150749539 C T SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.1495 p.P499S 0.155 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ASPM 259266 genome.wustl.edu 37 1 197091175 197091176 + Splice_Site INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 197091175 197091176 - A INS ASPM ENST00000367409 human ensembl 70_37 -1 known splice_site_ins c.3742-3_3742-2 e16-2 1.000:0.990 - - - no_errors ASPM HGNC ASPM 259266 genome.wustl.edu 37 1 197112773 197112773 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 197112773 197112773 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.609 p.G203 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ASS1 445 genome.wustl.edu 37 9 133352327 133352327 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 133352327 133352327 C G SNP ASS1 ENST00000334909 human ensembl 70_37 +1 known missense c.667 p.L223V 0.970 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ASS1 445 genome.wustl.edu 37 9 133352341 133352341 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 133352341 133352341 C T SNP ASS1 ENST00000334909 human ensembl 70_37 +1 known silent c.681 p.F227 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ATAT1 79969 genome.wustl.edu 37 6 30613720 30613721 + Frame_Shift_Ins INS - - G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 30613720 30613721 - G INS ATAT1 ENST00000376485 human ensembl 70_37 +1 known frame_shift_ins c.1017_1018 p.V341fs 0.985:0.997 NULL pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ATCAY 85300 genome.wustl.edu 37 19 3909586 3909586 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3909586 3909586 G A SNP ATCAY ENST00000301260 human ensembl 70_37 +1 known silent c.750 p.L250 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ATF3 467 genome.wustl.edu 37 1 212793751 212793751 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 212793751 212793751 T G SNP ATF3 ENST00000492118 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors ATF3 HGNC ATF4P4 100127952 genome.wustl.edu 37 11 113660803 113660803 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 113660803 113660803 C T SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 0.608 - - - no_errors ATF4P4 HGNC ATHL1 80162 genome.wustl.edu 37 11 290594 290594 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 290594 290594 G A SNP ATHL1 ENST00000409548 human ensembl 70_37 +1 known missense c.464 p.G155E 1.000 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ATL1 51062 genome.wustl.edu 37 14 51026870 51026870 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 51026870 51026870 G C SNP ATL1 ENST00000556478 human ensembl 70_37 +1 known rna NULL NULL 0.185 - - - no_errors ATL1 HGNC ATM 472 genome.wustl.edu 37 11 108150308 108150308 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 108150308 108150308 G C SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.3375 p.L1125F 0.889 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ATP10D 57205 genome.wustl.edu 37 4 47589060 47589060 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 47589060 47589060 A T SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known missense c.3778 p.I1260F 0.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ATP6AP1 537 genome.wustl.edu 37 X 153662561 153662561 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153662561 153662561 G A SNP ATP6AP1 ENST00000369762 human ensembl 70_37 +1 known missense c.692 p.R231H 0.332 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ATP8A2 51761 genome.wustl.edu 37 13 26343298 26343298 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 26343298 26343298 C T SNP ATP8A2 ENST00000381655 human ensembl 70_37 +1 known silent c.2499 p.H833 0.004 superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A2 HGNC ATP8A2 51761 genome.wustl.edu 37 13 26501335 26501335 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 26501335 26501335 G A SNP ATP8A2 ENST00000491840 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP8A2 HGNC ATP8B3 148229 genome.wustl.edu 37 19 1785261 1785261 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1785261 1785261 G A SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known silent c.3459 p.C1153 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ATP8B3 148229 genome.wustl.edu 37 19 1787158 1787158 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1787158 1787158 G T SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known missense c.3127 p.L1043I 0.899 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ATXN7 6314 genome.wustl.edu 37 3 63976453 63976453 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 63976453 63976453 T G SNP ATXN7 ENST00000398590 human ensembl 70_37 +1 known missense c.1600 p.Y534D 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC AVIL 10677 genome.wustl.edu 37 12 58201263 58201263 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 58201263 58201263 C T SNP AVIL ENST00000257861 human ensembl 70_37 -1 known missense c.1342 p.A448T 0.999 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors AVIL HGNC AWAT1 158833 genome.wustl.edu 37 X 69456971 69456971 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 69456971 69456971 C T SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known silent c.333 p.G111 0.298 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC B3GAT3 26229 genome.wustl.edu 37 11 62384213 62384213 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 62384213 62384213 C T SNP B3GAT3 ENST00000265471 human ensembl 70_37 -1 known missense c.674 p.R225Q 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT3 HGNC B3GNT4 79369 genome.wustl.edu 37 12 122692314 122692314 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 122692314 122692314 G A SNP B3GNT4 ENST00000545141 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors B3GNT4 HGNC BANF1 8815 genome.wustl.edu 37 11 65771228 65771228 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 65771228 65771228 C T SNP BANF1 ENST00000312175 human ensembl 70_37 +1 known silent c.255 p.C85 0.156 pfam_BAF_prot,superfamily_BAF_prot pfam_BAF_prot,superfamily_BAF_prot - no_errors BANF1 HGNC BANP 54971 genome.wustl.edu 37 16 88110455 88110455 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88110455 88110455 G A SNP BANP ENST00000481948 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BANP HGNC BARHL2 343472 genome.wustl.edu 37 1 91182143 91182143 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 91182143 91182143 C T SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known missense c.610 p.D204N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC BAZ2B 29994 genome.wustl.edu 37 2 160310196 160310196 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 160310196 160310196 C T SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.262 p.E88K 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC BBX 56987 genome.wustl.edu 37 3 107492169 107492169 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 107492169 107492169 G C SNP BBX ENST00000325805 human ensembl 70_37 +1 known missense c.1601 p.R534T 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC BCHE 590 genome.wustl.edu 37 3 165547700 165547700 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 165547700 165547700 A C SNP BCHE ENST00000264381 human ensembl 70_37 -1 known silent c.1122 p.T374 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC BCL10 8915 genome.wustl.edu 37 1 85742018 85742018 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 85742018 85742018 C A SNP BCL10 ENST00000271015 human ensembl 70_37 -1 known silent c.18 p.P6 0.997 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors BCL10 HGNC BCOR 54880 genome.wustl.edu 37 X 39922921 39922921 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 39922921 39922921 C A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known nonsense c.3787 p.E1263* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BCS1L 617 genome.wustl.edu 37 2 219526252 219526252 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 219526252 219526252 C G SNP BCS1L ENST00000359273 human ensembl 70_37 +1 known missense c.444 p.F148L 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC BEND7 222389 genome.wustl.edu 37 10 13489309 13489309 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 13489309 13489309 C T SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known silent c.1191 p.A397 0.978 NULL pfam_BEN_domain - no_errors BEND7 HGNC BHLHB9 80823 genome.wustl.edu 37 X 102004336 102004336 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 102004336 102004336 A G SNP BHLHB9 ENST00000361229 human ensembl 70_37 +1 known missense c.413 p.D138G 0.199 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC BIN3 55909 genome.wustl.edu 37 8 22478789 22478789 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 22478789 22478789 C T SNP BIN3 ENST00000519335 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BIN3 HGNC BIRC8 112401 genome.wustl.edu 37 19 53793036 53793036 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 53793036 53793036 C T SNP BIRC8 ENST00000426466 human ensembl 70_37 -1 known missense c.592 p.A198T 0.003 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC BMP6 654 genome.wustl.edu 37 6 7727734 7727734 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 7727734 7727734 C G SNP BMP6 ENST00000283147 human ensembl 70_37 +1 known silent c.546 p.L182 0.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC BMP6 654 genome.wustl.edu 37 6 7861760 7861760 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 7861760 7861760 G A SNP BMP6 ENST00000283147 human ensembl 70_37 +1 known missense c.934 p.A312T 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC BOC 91653 genome.wustl.edu 37 3 113002407 113002407 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 113002407 113002407 G A SNP BOC ENST00000273395 human ensembl 70_37 +1 known missense c.2584 p.V862I 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors BOC HGNC BOD1 91272 genome.wustl.edu 37 5 173035296 173035296 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 173035296 173035296 C T SNP BOD1 ENST00000311086 human ensembl 70_37 -1 known splice_site c.558-1 e4-1 0.841 - - - no_errors BOD1 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13610966 13610966 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 13610966 13610966 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.1556 p.R519Q 1.000 NULL NULL - no_errors BOD1L1 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13616125 13616125 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 13616125 13616125 A C SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.869 p.I290S 0.031 NULL NULL - no_errors BOD1L1 HGNC BOLL 66037 genome.wustl.edu 37 2 198621238 198621238 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 198621238 198621238 C T SNP BOLL ENST00000321801 human ensembl 70_37 -1 known missense c.679 p.E227K 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC BPI 671 genome.wustl.edu 37 20 36938980 36938980 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 36938980 36938980 G T SNP BPI ENST00000262865 human ensembl 70_37 +1 known missense c.474 p.K158N 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC BRAP 8315 genome.wustl.edu 37 12 112103478 112103478 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 112103478 112103478 G T SNP BRAP ENST00000419234 human ensembl 70_37 -1 known missense c.861 p.F287L 0.999 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC BRAP 8315 genome.wustl.edu 37 12 112103588 112103588 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 112103588 112103588 C T SNP BRAP ENST00000419234 human ensembl 70_37 -1 known missense c.751 p.A251T 1.000 pfam_BRAP2 pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC BRCA2 675 genome.wustl.edu 37 13 32937456 32937456 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 32937456 32937456 A G SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known missense c.8117 p.N2706S 0.027 pfam_BRCA2_OB_1,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC BRD4 23476 genome.wustl.edu 37 19 15349885 15349885 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15349885 15349885 C T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.3767 p.R1256Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC BROX 148362 genome.wustl.edu 37 1 222903491 222903491 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 222903491 222903491 G C SNP BROX ENST00000340934 human ensembl 70_37 +1 known missense c.961 p.E321Q 0.999 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC BRPF3 27154 genome.wustl.edu 37 6 36172556 36172556 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 36172556 36172556 C A SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known missense c.1570 p.H524N 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC BSN 8927 genome.wustl.edu 37 3 49699404 49699404 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49699404 49699404 G C SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.10126 p.E3376Q 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BUB1 699 genome.wustl.edu 37 2 111415990 111415990 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 111415990 111415990 G C SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.1513 p.Q505E 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC BUB1 699 genome.wustl.edu 37 2 111431774 111431774 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 111431774 111431774 A C SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.114 p.F38L 1.000 pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC BUD13 84811 genome.wustl.edu 37 11 116628986 116628986 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 116628986 116628986 C A SNP BUD13 ENST00000260210 human ensembl 70_37 -1 known missense c.1498 p.G500W 1.000 pfam_Bud13 pfam_Bud13 - no_errors BUD13 HGNC C14orf169 79697 genome.wustl.edu 37 14 73959863 73959864 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 73959863 73959864 - A INS C14orf169 ENST00000531973 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C14orf169 HGNC C16orf78 123970 genome.wustl.edu 37 16 49433075 49433075 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 49433075 49433075 C A SNP C16orf78 ENST00000299191 human ensembl 70_37 +1 known silent c.684 p.T228 0.999 NULL NULL - no_errors C16orf78 HGNC C16orf95 100506581 genome.wustl.edu 37 16 87349385 87349385 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 87349385 87349385 C T SNP C16orf95 ENST00000567970 human ensembl 70_37 -1 known missense c.197 p.R66H 0.000 NULL NULL - no_errors C16orf95 HGNC MISP 126353 genome.wustl.edu 37 19 757449 757449 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 757449 757449 G T SNP C19orf21 ENST00000215582 human ensembl 70_37 +1 known missense c.503 p.G168V 0.002 NULL NULL - no_errors C19orf21 HGNC TMEM259 91304 genome.wustl.edu 37 19 1014419 1014419 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1014419 1014419 C T SNP C19orf6 ENST00000356663 human ensembl 70_37 -1 known silent c.279 p.S93 0.005 pfam_Membralin pfam_Membralin - no_errors C19orf6 HGNC C1orf101 257044 genome.wustl.edu 37 1 244662331 244662331 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 244662331 244662331 G A SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known missense c.379 p.E127K 1.000 NULL NULL - no_errors C1orf101 HGNC C1orf109 54955 genome.wustl.edu 37 1 38148083 38148083 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 38148083 38148083 A C SNP C1orf109 ENST00000494120 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf109 HGNC CCDC181 57821 genome.wustl.edu 37 1 169391436 169391436 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 169391436 169391436 G C SNP C1orf114 ENST00000367806 human ensembl 70_37 -1 known missense c.233 p.P78R 0.184 NULL NULL - no_errors C1orf114 HGNC C1orf162 128346 genome.wustl.edu 37 1 112018185 112018185 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 112018185 112018185 C G SNP C1orf162 ENST00000464591 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors C1orf162 HGNC C1orf168 199920 genome.wustl.edu 37 1 57257810 57257810 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 57257810 57257810 C T SNP C1orf168 ENST00000343433 human ensembl 70_37 -1 known missense c.676 p.E226K 0.001 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC C1orf173 127254 genome.wustl.edu 37 1 75065580 75065580 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 75065580 75065580 G T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.1525 p.Q509K 0.982 NULL NULL - no_errors C1orf173 HGNC C1orf189 388701 genome.wustl.edu 37 1 154178094 154178094 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 154178094 154178094 T C SNP C1orf189 ENST00000368525 human ensembl 70_37 -1 known silent c.54 p.G18 0.003 NULL NULL - no_errors C1orf189 HGNC C1orf222 85452 genome.wustl.edu 37 1 1903506 1903506 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1903506 1903506 C T SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known silent c.801 p.E267 0.270 NULL NULL - no_errors C1orf222 HGNC C1orf65 164127 genome.wustl.edu 37 1 223568631 223568631 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 223568631 223568631 T G SNP C1orf65 ENST00000366875 human ensembl 70_37 +1 known missense c.1814 p.L605R 0.659 NULL NULL - no_errors C1orf65 HGNC C4orf3 401152 genome.wustl.edu 37 4 120219935 120219935 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 120219935 120219935 C T SNP C4orf3 ENST00000399075 human ensembl 70_37 -1 known splice_site c.600-1 e3-1 0.929 - - - no_errors C4orf3 HGNC C5orf38 153571 genome.wustl.edu 37 5 2752434 2752434 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 2752434 2752434 C T SNP C5orf38 ENST00000334000 human ensembl 70_37 +1 known missense c.56 p.S19F 0.118 NULL NULL - no_errors C5orf38 HGNC C5orf56 441108 genome.wustl.edu 37 5 131811683 131811683 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 131811683 131811683 C T SNP C5orf56 ENST00000464024 human ensembl 70_37 +1 putative rna NULL NULL 0.004 - - - no_errors C5orf56 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100056251 100056251 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100056251 100056251 T A SNP C9orf174 ENST00000357054 human ensembl 70_37 +1 known missense c.109 p.Y37N 1.000 NULL NULL - no_errors C9orf174 HGNC C9orf72 203228 genome.wustl.edu 37 9 27548004 27548004 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 27548004 27548004 A C SNP C9orf72 ENST00000488117 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors C9orf72 HGNC C9orf84 158401 genome.wustl.edu 37 9 114490154 114490154 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 114490154 114490154 C T SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known silent c.1401 p.K467 0.639 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC C9orf96 169436 genome.wustl.edu 37 9 136265575 136265575 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 136265575 136265575 G A SNP C9orf96 ENST00000371957 human ensembl 70_37 +1 known silent c.1116 p.V372 0.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors C9orf96 HGNC CACNA1C 775 genome.wustl.edu 37 12 2706419 2706419 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 2706419 2706419 T G SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.2817 p.V939 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNA1E 777 genome.wustl.edu 37 1 181706769 181706769 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 181706769 181706769 G T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.3531 p.L1177 0.974 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CACNA1S 779 genome.wustl.edu 37 1 201030548 201030548 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 201030548 201030548 G C SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known missense c.3102 p.I1034M 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC CACNA2D3 55799 genome.wustl.edu 37 3 55052341 55052341 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 55052341 55052341 C T SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known missense c.2984 p.S995F 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC CACNB4 785 genome.wustl.edu 37 2 152717265 152717265 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 152717265 152717265 C G SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.831 p.K277N 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC CACUL1 143384 genome.wustl.edu 37 10 120460911 120460911 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 120460911 120460911 A G SNP CACUL1 ENST00000369151 human ensembl 70_37 -1 known missense c.703 p.Y235H 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC CAD 790 genome.wustl.edu 37 2 27444186 27444186 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 27444186 27444186 T A SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.323 p.L108Q 1.000 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CAD 790 genome.wustl.edu 37 2 27461354 27461354 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 27461354 27461354 C T SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.4916 p.A1639V 0.999 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CAMSAP3 57662 genome.wustl.edu 37 19 7675783 7675783 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7675783 7675783 G A SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known missense c.1096 p.E366K 0.931 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC CANT1 124583 genome.wustl.edu 37 17 76993650 76993650 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 76993650 76993650 G A SNP CANT1 ENST00000302345 human ensembl 70_37 -1 known missense c.55 p.R19W 1.000 NULL pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC CAPN6 827 genome.wustl.edu 37 X 110494902 110494902 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 110494902 110494902 C T SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known missense c.768 p.M256I 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,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC CAPRIN1 4076 genome.wustl.edu 37 11 34120902 34120902 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 34120902 34120902 G A SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known silent c.2118 p.Q706 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC CAPZA1 829 genome.wustl.edu 37 1 113189878 113189878 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 113189878 113189878 T G SNP CAPZA1 ENST00000263168 human ensembl 70_37 +1 known missense c.86 p.F29C 1.000 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA1 HGNC CAPZA2 830 genome.wustl.edu 37 7 116544251 116544251 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 116544251 116544251 C T SNP CAPZA2 ENST00000361183 human ensembl 70_37 +1 known silent c.240 p.G80 0.855 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA2 HGNC CARKD 55739 genome.wustl.edu 37 13 111286919 111286919 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 111286919 111286919 G T SNP CARKD ENST00000309957 human ensembl 70_37 +1 known missense c.523 p.D175Y 0.996 pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel - no_errors CARKD HGNC CARM1P1 100130873 genome.wustl.edu 37 9 2921851 2921851 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 2921851 2921851 C G SNP CARM1P1 ENST00000497195 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CARM1P1 HGNC CASK 8573 genome.wustl.edu 37 X 41390272 41390272 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 41390272 41390272 G A SNP CASK ENST00000378163 human ensembl 70_37 -1 known silent c.2508 p.D836 0.545 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC CASK-AS1 100873928 genome.wustl.edu 37 X 41379397 41379397 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 41379397 41379397 A C SNP CASK-AS1 ENST00000451126 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CASK-AS1 HGNC CAT 847 genome.wustl.edu 37 11 34492955 34492955 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 34492955 34492955 C T SNP CAT ENST00000241052 human ensembl 70_37 +1 known missense c.1559 p.A520V 0.021 NULL pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC CATSPERG 57828 genome.wustl.edu 37 19 38857867 38857867 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38857867 38857867 G A SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known silent c.2685 p.T895 0.000 NULL NULL - no_errors CATSPERG HGNC CBLB 868 genome.wustl.edu 37 3 105420966 105420966 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 105420966 105420966 C T SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.1931 p.R644H 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC CC2D1A 54862 genome.wustl.edu 37 19 14024066 14024066 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 14024066 14024066 G T SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.464 p.R155I 0.983 smart_DM14 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC CC2D1A 54862 genome.wustl.edu 37 19 14024406 14024406 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 14024406 14024406 G A SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.703 p.A235T 0.016 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC CC2D1A 54862 genome.wustl.edu 37 19 14040251 14040251 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 14040251 14040251 G A SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.2579 p.R860Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC CC2D1B 200014 genome.wustl.edu 37 1 52822066 52822066 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 52822066 52822066 C G SNP CC2D1B ENST00000371586 human ensembl 70_37 -1 known missense c.1945 p.E649Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC CC2D1B 200014 genome.wustl.edu 37 1 52826441 52826441 + RNA DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 52826441 52826441 G - DEL CC2D1B ENST00000491136 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors CC2D1B HGNC CCDC141 285025 genome.wustl.edu 37 2 179742638 179742638 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179742638 179742638 G A SNP CCDC141 ENST00000409284 human ensembl 70_37 -1 putative missense c.1952 p.S651L 0.988 NULL pfam_Spectrin_repeat - no_errors CCDC141 HGNC CCDC146 57639 genome.wustl.edu 37 7 76908107 76908107 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 76908107 76908107 G A SNP CCDC146 ENST00000285871 human ensembl 70_37 +1 known silent c.1479 p.K493 1.000 NULL NULL - no_errors CCDC146 HGNC CCDC151 115948 genome.wustl.edu 37 19 11531613 11531613 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11531613 11531613 C T SNP CCDC151 ENST00000356392 human ensembl 70_37 -1 known missense c.1678 p.E560K 0.993 NULL NULL - no_errors CCDC151 HGNC CCDC158 339965 genome.wustl.edu 37 4 77288844 77288844 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 77288844 77288844 C T SNP CCDC158 ENST00000388914 human ensembl 70_37 -1 known missense c.1433 p.R478H 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC CCDC171 203238 genome.wustl.edu 37 9 15727996 15727996 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 15727996 15727996 G C SNP CCDC171 ENST00000380701 human ensembl 70_37 +1 known missense c.1822 p.D608H 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC CCDC37 348807 genome.wustl.edu 37 3 126153218 126153218 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 126153218 126153218 G A SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known missense c.1625 p.R542H 0.477 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC CCDC47 57003 genome.wustl.edu 37 17 61831833 61831833 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 61831833 61831833 G A SNP CCDC47 ENST00000225726 human ensembl 70_37 -1 known missense c.994 p.H332Y 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC CCDC61 729440 genome.wustl.edu 37 19 46520259 46520259 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46520259 46520259 C T SNP CCDC61 ENST00000263284 human ensembl 70_37 +1 known silent c.1299 p.F433 0.998 NULL NULL - no_errors CCDC61 HGNC CCDC74A 90557 genome.wustl.edu 37 2 132288337 132288337 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 132288337 132288337 C T SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.481 p.R161C 0.042 NULL NULL - no_errors CCDC74A HGNC CCDC91 55297 genome.wustl.edu 37 12 28412327 28412327 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 28412327 28412327 G T SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known nonsense c.61 p.E21* 0.990 NULL NULL - no_errors CCDC91 HGNC CCDC94 55702 genome.wustl.edu 37 19 4262097 4262097 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4262097 4262097 G A SNP CCDC94 ENST00000262962 human ensembl 70_37 +1 known missense c.694 p.A232T 0.864 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC CCNB3 85417 genome.wustl.edu 37 X 50028145 50028145 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 50028145 50028145 G A SNP CCNB3 ENST00000491907 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCNB3 HGNC CCNT2 905 genome.wustl.edu 37 2 135711370 135711370 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 135711370 135711370 G C SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known missense c.1345 p.D449H 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC CCT3 7203 genome.wustl.edu 37 1 156288730 156288730 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156288730 156288730 G A SNP CCT3 ENST00000295688 human ensembl 70_37 -1 known missense c.688 p.R230W 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC CCT6A 908 genome.wustl.edu 37 7 56124052 56124052 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 56124052 56124052 G A SNP CCT6A ENST00000275603 human ensembl 70_37 +1 known missense c.559 p.D187N 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC CD14 929 genome.wustl.edu 37 5 140011947 140011947 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140011947 140011947 C A SNP CD14 ENST00000302014 human ensembl 70_37 -1 known missense c.622 p.G208C 0.657 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC CD244 51744 genome.wustl.edu 37 1 160801171 160801171 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 160801171 160801171 C T SNP CD244 ENST00000368033 human ensembl 70_37 -1 known missense c.1079 p.R360H 0.803 NULL pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like - no_errors CD244 HGNC CD247 919 genome.wustl.edu 37 1 167487676 167487676 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 167487676 167487676 C T SNP CD247 ENST00000362089 human ensembl 70_37 -1 known silent c.27 p.A9 0.000 NULL pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC CD300LD 100131439 genome.wustl.edu 37 17 72584927 72584927 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 72584927 72584927 T G SNP CD300LD ENST00000375352 human ensembl 70_37 -1 known silent c.102 p.S34 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LD HGNC CD46 4179 genome.wustl.edu 37 1 207940452 207940452 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 207940452 207940452 C T SNP CD46 ENST00000322875 human ensembl 70_37 +1 known silent c.768 p.C256 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC CD5L 922 genome.wustl.edu 37 1 157805798 157805798 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157805798 157805798 C T SNP CD5L ENST00000368174 human ensembl 70_37 -1 known missense c.203 p.G68E 0.989 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 CD5L HGNC CD6 923 genome.wustl.edu 37 11 60776020 60776020 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 60776020 60776020 C T SNP CD6 ENST00000313421 human ensembl 70_37 +1 known missense c.484 p.R162C 0.985 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD6 HGNC CD8B 926 genome.wustl.edu 37 2 87072069 87072069 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 87072069 87072069 C T SNP CD8B ENST00000331469 human ensembl 70_37 -1 known missense c.596 p.R199K 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8B HGNC CDC40 51362 genome.wustl.edu 37 6 110514391 110514391 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 110514391 110514391 T G SNP CDC40 ENST00000307731 human ensembl 70_37 +1 known missense c.196 p.L66V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC CDH10 1008 genome.wustl.edu 37 5 24511474 24511474 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 24511474 24511474 C G SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.964 p.E322Q 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDH19 28513 genome.wustl.edu 37 18 64172242 64172242 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 64172242 64172242 T A SNP CDH19 ENST00000262150 human ensembl 70_37 -1 known missense c.2126 p.D709V 0.999 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC CDH4 1002 genome.wustl.edu 37 20 60448849 60448849 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 60448849 60448849 C T SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known missense c.943 p.R315W 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC CDH6 1004 genome.wustl.edu 37 5 31267658 31267658 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 31267658 31267658 G A SNP CDH6 ENST00000265071 human ensembl 70_37 +1 known silent c.78 p.K26 0.862 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC CDHR4 389118 genome.wustl.edu 37 3 49832787 49832787 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49832787 49832787 C T SNP CDHR4 ENST00000412678 human ensembl 70_37 -1 known silent c.873 p.T291 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC CDK11A 728642 genome.wustl.edu 37 1 1636376 1636376 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1636376 1636376 G C SNP CDK11A ENST00000404249 human ensembl 70_37 -1 known silent c.1425 p.L475 0.961 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 CDK11A HGNC CDON 50937 genome.wustl.edu 37 11 125853858 125853858 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 125853858 125853858 G A SNP CDON ENST00000392693 human ensembl 70_37 -1 known silent c.2904 p.I968 0.398 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC CDT1 81620 genome.wustl.edu 37 16 88871169 88871169 + Splice_Site SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88871169 88871169 G T SNP CDT1 ENST00000301019 human ensembl 70_37 +1 known splice_site c.352-1 e3-1 0.020 - - - no_errors CDT1 HGNC CEBPZ 10153 genome.wustl.edu 37 2 37455944 37455944 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 37455944 37455944 C T SNP CEBPZ ENST00000234170 human ensembl 70_37 -1 known missense c.392 p.S131N 0.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC CEL 1056 genome.wustl.edu 37 9 135947029 135947029 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 135947029 135947029 G A SNP CEL ENST00000372080 human ensembl 70_37 +1 known missense c.2149 p.V717M 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC CELSR2 1952 genome.wustl.edu 37 1 109817461 109817461 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109817461 109817461 A - DEL CELSR2 ENST00000491918 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CELSR2 HGNC CENPE 1062 genome.wustl.edu 37 4 104068764 104068764 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 104068764 104068764 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.3883 p.V1295M 0.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CENPE 1062 genome.wustl.edu 37 4 104080379 104080379 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 104080379 104080379 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.2389 p.E797K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CENPE 1062 genome.wustl.edu 37 4 104084651 104084651 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 104084651 104084651 A T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known nonsense c.1707 p.Y569* 1.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CEP112 201134 genome.wustl.edu 37 17 64092438 64092438 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 64092438 64092438 C T SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known silent c.699 p.P233 0.527 NULL superfamily_t-SNARE - no_errors CEP112 HGNC CEP135 9662 genome.wustl.edu 37 4 56847537 56847537 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 56847537 56847537 A T SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known nonsense c.1771 p.K591* 1.000 NULL superfamily_Prefoldin - no_errors CEP135 HGNC CEP152 22995 genome.wustl.edu 37 15 49030519 49030519 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 49030519 49030519 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known missense c.5060 p.S1687L 0.036 NULL NULL - no_errors CEP152 HGNC CEP170 9859 genome.wustl.edu 37 1 243328008 243328008 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 243328008 243328008 G A SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.3254 p.S1085L 0.934 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC CEP68 23177 genome.wustl.edu 37 2 65298779 65298779 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 65298779 65298779 C G SNP CEP68 ENST00000377990 human ensembl 70_37 +1 known silent c.549 p.S183 0.000 NULL NULL - no_errors CEP68 HGNC CHADL 150356 genome.wustl.edu 37 22 41633589 41633589 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 41633589 41633589 G A SNP CHADL ENST00000216241 human ensembl 70_37 -1 known missense c.1487 p.A496V 0.163 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHADL HGNC CHD1 1105 genome.wustl.edu 37 5 98236756 98236756 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 98236756 98236756 A C SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known silent c.618 p.L206 0.986 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC CHD3 1107 genome.wustl.edu 37 17 7804021 7804021 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 7804021 7804021 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2950 p.V984I 1.000 pfam_SNF2_N pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC CHD6 84181 genome.wustl.edu 37 20 40111980 40111980 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 40111980 40111980 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.2437 p.D813N 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHD7 55636 genome.wustl.edu 37 8 61750671 61750671 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 61750671 61750671 C G SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.4390 p.L1464V 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHIC1 53344 genome.wustl.edu 37 X 72901073 72901073 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 72901073 72901073 C T SNP CHIC1 ENST00000498318 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CHIC1 HGNC CHKA 1119 genome.wustl.edu 37 11 67832053 67832053 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 67832053 67832053 C T SNP CHKA ENST00000265689 human ensembl 70_37 -1 known missense c.1171 p.E391K 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKA HGNC CHML 1122 genome.wustl.edu 37 1 241798625 241798625 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 241798625 241798625 A G SNP CHML ENST00000366553 human ensembl 70_37 -1 known silent c.444 p.F148 0.000 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC CHRM2 1129 genome.wustl.edu 37 7 136700197 136700197 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 136700197 136700197 C G SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known missense c.585 p.F195L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC CHUK 1147 genome.wustl.edu 37 10 101953149 101953149 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 101953149 101953149 C G SNP CHUK ENST00000370397 human ensembl 70_37 -1 known missense c.2014 p.E672Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC CIC 23152 genome.wustl.edu 37 19 42791514 42791514 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 42791514 42791514 G A SNP CIC ENST00000160740 human ensembl 70_37 +1 known silent c.495 p.P165 0.991 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CLCC1 23155 genome.wustl.edu 37 1 109477372 109477372 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109477372 109477372 C G SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known missense c.1576 p.D526H 0.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC CLCN2 1181 genome.wustl.edu 37 3 184071119 184071119 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 184071119 184071119 C T SNP CLCN2 ENST00000265593 human ensembl 70_37 -1 known missense c.1947 p.M649I 0.990 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC CLCNKA 1187 genome.wustl.edu 37 1 16349179 16349179 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 16349179 16349179 G - DEL CLCNKA ENST00000331433 human ensembl 70_37 +1 known frame_shift_del c.65 p.G23fs 0.997 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC CLDN10 9071 genome.wustl.edu 37 13 96086290 96086290 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 96086290 96086290 T G SNP CLDN10 ENST00000376873 human ensembl 70_37 +1 known missense c.203 p.F68C 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10 - no_errors CLDN10 HGNC CLEC14A 161198 genome.wustl.edu 37 14 38724897 38724897 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 38724897 38724897 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known missense c.331 p.R111W 0.992 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC CLEC16A 23274 genome.wustl.edu 37 16 11154829 11154829 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 11154829 11154829 C T SNP CLEC16A ENST00000409790 human ensembl 70_37 +1 known missense c.2066 p.P689L 0.998 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC CLEC1B 51266 genome.wustl.edu 37 12 10151671 10151671 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 10151671 10151671 A G SNP CLEC1B ENST00000298527 human ensembl 70_37 -1 known missense c.29 p.L10S 0.813 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1B HGNC CLIP3 25999 genome.wustl.edu 37 19 36518143 36518143 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36518143 36518143 G A SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.197 p.A66V 0.998 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC CLK2 1196 genome.wustl.edu 37 1 155238500 155238500 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 155238500 155238500 T A SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known silent c.486 p.R162 1.000 superfamily_Kinase-like_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 CLK2 HGNC CLTCL1 8218 genome.wustl.edu 37 22 19207507 19207507 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 19207507 19207507 C G SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.2806 p.E936Q 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC CMYA5 202333 genome.wustl.edu 37 5 79030249 79030249 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 79030249 79030249 T G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.5661 p.I1887M 0.002 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CMYA5 202333 genome.wustl.edu 37 5 79032670 79032670 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 79032670 79032670 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.8082 p.V2694 0.020 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNGA2 1260 genome.wustl.edu 37 X 150912869 150912869 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 150912869 150912869 C T SNP CNGA2 ENST00000329903 human ensembl 70_37 +1 known missense c.1894 p.R632C 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC CNGA3 1261 genome.wustl.edu 37 2 98986443 98986443 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 98986443 98986443 C T SNP CNGA3 ENST00000272602 human ensembl 70_37 +1 known missense c.5 p.A2V 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC CNGA4 1262 genome.wustl.edu 37 11 6261555 6261555 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 6261555 6261555 T C SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known silent c.531 p.F177 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC CNOT2 4848 genome.wustl.edu 37 12 70729314 70729314 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 70729314 70729314 T G SNP CNOT2 ENST00000229195 human ensembl 70_37 +1 known missense c.746 p.I249R 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC CNOT3 4849 genome.wustl.edu 37 19 54646905 54646905 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54646905 54646905 G C SNP CNOT3 ENST00000221232 human ensembl 70_37 +1 known missense c.76 p.E26Q 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC CNTN4 152330 genome.wustl.edu 37 3 3072659 3072659 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 3072659 3072659 G T SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.1783 p.G595C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC CNTN6 27255 genome.wustl.edu 37 3 1424984 1424984 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 1424984 1424984 A C SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known missense c.2409 p.Q803H 0.859 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 - no_errors CNTN6 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 125281944 125281944 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 125281944 125281944 G A SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known silent c.1389 p.T463 0.781 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,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 CNTNAP5 HGNC COBL 23242 genome.wustl.edu 37 7 51258745 51258745 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 51258745 51258745 G A SNP COBL ENST00000395542 human ensembl 70_37 -1 known missense c.487 p.R163W 0.018 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC COL16A1 1307 genome.wustl.edu 37 1 32118157 32118158 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 32118157 32118158 - A INS COL16A1 ENST00000489280 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors COL16A1 HGNC COL16A1 1307 genome.wustl.edu 37 1 32118160 32118160 + RNA DEL C C - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 32118160 32118160 C - DEL COL16A1 ENST00000489280 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COL16A1 HGNC COL1A2 1278 genome.wustl.edu 37 7 94039761 94039761 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 94039761 94039761 T A SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known silent c.1119 p.G373 0.928 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC COL24A1 255631 genome.wustl.edu 37 1 86554876 86554876 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 86554876 86554876 G - DEL COL24A1 ENST00000370571 human ensembl 70_37 -1 known frame_shift_del c.1688 p.P563fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC COL9A3 1299 genome.wustl.edu 37 20 61468389 61468389 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 61468389 61468389 G A SNP COL9A3 ENST00000466532 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL9A3 HGNC COMMD2 51122 genome.wustl.edu 37 3 149459430 149459430 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 149459430 149459430 G A SNP COMMD2 ENST00000473414 human ensembl 70_37 -1 known missense c.478 p.H160Y 0.168 pfam_HCaRG pfam_HCaRG - no_errors COMMD2 HGNC COPE 11316 genome.wustl.edu 37 19 19014100 19014100 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19014100 19014100 G T SNP COPE ENST00000262812 human ensembl 70_37 -1 known missense c.712 p.L238M 0.921 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC COPS3 8533 genome.wustl.edu 37 17 17163731 17163731 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 17163731 17163731 C T SNP COPS3 ENST00000268717 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC CORO1B 57175 genome.wustl.edu 37 11 67207593 67207593 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 67207593 67207593 C T SNP CORO1B ENST00000341356 human ensembl 70_37 -1 known missense c.1003 p.A335T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC CORO6 84940 genome.wustl.edu 37 17 27946167 27946167 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 27946167 27946167 G A SNP CORO6 ENST00000345068 human ensembl 70_37 -1 known missense c.362 p.T121M 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC COX19 90639 genome.wustl.edu 37 7 1009016 1009017 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 1009016 1009017 - T INS COX19 ENST00000344111 human ensembl 70_37 -1 known frame_shift_ins c.271_270 p.*90fs 0.000:0.000 NULL pfam_CHCH,superfamily_MTCP1 - no_errors COX19 HGNC CPNE4 131034 genome.wustl.edu 37 3 131293956 131293956 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 131293956 131293956 A C SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known missense c.940 p.F314V 1.000 NULL pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC CPSF1 29894 genome.wustl.edu 37 8 145626433 145626433 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 145626433 145626433 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.424 p.R142W 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CREB3L3 84699 genome.wustl.edu 37 19 4168383 4168383 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4168383 4168383 A C SNP CREB3L3 ENST00000078445 human ensembl 70_37 +1 known missense c.750 p.K250N 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC CRISP2 7180 genome.wustl.edu 37 6 49665598 49665598 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 49665598 49665598 A C SNP CRISP2 ENST00000339139 human ensembl 70_37 -1 known missense c.490 p.Y164D 0.898 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP2 HGNC CRISPLD1 83690 genome.wustl.edu 37 8 75925233 75925233 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 75925233 75925233 C T SNP CRISPLD1 ENST00000517786 human ensembl 70_37 +1 putative missense c.44 p.A15V 0.729 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors CRISPLD1 HGNC CRMP1 1400 genome.wustl.edu 37 4 5830265 5830265 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 5830265 5830265 C T SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known missense c.1754 p.R585Q 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16956993 16956993 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 16956993 16956993 A G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CROCCP2 HGNC YBX3 8531 genome.wustl.edu 37 12 10862601 10862601 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 10862601 10862601 C T SNP CSDA ENST00000228251 human ensembl 70_37 -1 known missense c.686 p.R229H 0.998 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors CSDA HGNC CSGALNACT2 55454 genome.wustl.edu 37 10 43678974 43678974 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 43678974 43678974 G T SNP CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known missense c.1613 p.S538I 0.956 NULL pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC CSMD1 64478 genome.wustl.edu 37 8 2855580 2855580 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 2855580 2855580 T A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.8333 p.Q2778L 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD3 114788 genome.wustl.edu 37 8 113657418 113657418 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 113657418 113657418 G T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.3230 p.T1077K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSMD3 114788 genome.wustl.edu 37 8 113662424 113662425 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 113662424 113662425 - T INS CSMD3 ENST00000297405 human ensembl 70_37 -1 known frame_shift_ins c.3159_3158 p.N1053fs 1.000:1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSNK1A1 1452 genome.wustl.edu 37 5 148899919 148899919 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 148899919 148899919 C T SNP CSNK1A1 ENST00000515768 human ensembl 70_37 -1 known silent c.390 p.K130 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,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,pfscan_Prot_kinase_cat_dom - no_errors CSNK1A1 HGNC CTCFL 140690 genome.wustl.edu 37 20 56082640 56082640 + Nonstop_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 56082640 56082640 C G SNP CTCFL ENST00000432255 human ensembl 70_37 -1 known nonstop c.1451 p.*484S 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC CTNND2 1501 genome.wustl.edu 37 5 10992687 10992687 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 10992687 10992687 G A SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known missense c.3187 p.R1063C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC CTR9 9646 genome.wustl.edu 37 11 10794773 10794773 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 10794773 10794773 G A SNP CTR9 ENST00000361367 human ensembl 70_37 +1 known missense c.2680 p.E894K 0.995 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC CTTNBP2 83992 genome.wustl.edu 37 7 117424398 117424398 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 117424398 117424398 A C SNP CTTNBP2 ENST00000160373 human ensembl 70_37 -1 known missense c.2179 p.S727A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC CTTNBP2NL 55917 genome.wustl.edu 37 1 112998784 112998784 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 112998784 112998784 G C SNP CTTNBP2NL ENST00000271277 human ensembl 70_37 +1 known missense c.670 p.E224Q 0.998 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC CUBN 8029 genome.wustl.edu 37 10 17026127 17026127 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 17026127 17026127 G A SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.4502 p.A1501V 0.801 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CUL1 8454 genome.wustl.edu 37 7 148483659 148483659 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 148483659 148483659 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known missense c.1315 p.E439K 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC CUX2 23316 genome.wustl.edu 37 12 111758156 111758156 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 111758156 111758156 C T SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known silent c.2343 p.D781 0.899 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC CWC25 54883 genome.wustl.edu 37 17 36962572 36962572 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 36962572 36962572 G A SNP CWC25 ENST00000225428 human ensembl 70_37 -1 known nonsense c.979 p.R327* 1.000 NULL pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC CXXC1P1 392459 genome.wustl.edu 37 X 47583417 47583417 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47583417 47583417 T C SNP CXXC1P1 ENST00000483225 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CXXC1P1 HGNC CXorf23 256643 genome.wustl.edu 37 X 19973590 19973590 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 19973590 19973590 G T SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1369 p.L457I 1.000 NULL NULL - no_errors CXorf23 HGNC CXorf30 645090 genome.wustl.edu 37 X 36371742 36371742 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 36371742 36371742 G A SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.1135 p.E379K 0.010 NULL NULL - no_errors CXorf30 HGNC CXorf64 100130613 genome.wustl.edu 37 X 125955255 125955255 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 125955255 125955255 T C SNP CXorf64 ENST00000371125 human ensembl 70_37 +1 known missense c.634 p.S212P 0.892 NULL NULL - no_errors CXorf64 HGNC CYFIP1 23191 genome.wustl.edu 37 15 22945110 22945110 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 22945110 22945110 C T SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.1181 p.A394V 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC CYLD 1540 genome.wustl.edu 37 16 50813848 50813848 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 50813848 50813848 G C SNP CYLD ENST00000311559 human ensembl 70_37 +1 known missense c.1411 p.E471Q 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19 - no_errors CYLD HGNC CYMP 643160 genome.wustl.edu 37 1 111033838 111033838 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 111033838 111033838 G A SNP CYMP ENST00000420853 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CYMP HGNC CYP2C18 1562 genome.wustl.edu 37 10 96447906 96447906 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 96447906 96447906 G C SNP CYP2C18 ENST00000285979 human ensembl 70_37 +1 known missense c.356 p.R119T 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC CYP2D6 1565 genome.wustl.edu 37 22 42525885 42525885 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 42525885 42525885 G A SNP CYP2D6 ENST00000360608 human ensembl 70_37 -1 known silent c.207 p.F69 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC CYP4F24P 388514 genome.wustl.edu 37 19 15890551 15890551 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15890551 15890551 C G SNP CYP4F24P ENST00000587443 human ensembl 70_37 -1 known rna NULL NULL 0.066 - - - no_errors CYP4F24P HGNC CYP7B1 9420 genome.wustl.edu 37 8 65527718 65527718 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 65527718 65527718 G A SNP CYP7B1 ENST00000310193 human ensembl 70_37 -1 known missense c.922 p.L308F 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 CYTH3 9265 genome.wustl.edu 37 7 6210586 6210586 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 6210586 6210586 C T SNP CYTH3 ENST00000350796 human ensembl 70_37 -1 known missense c.586 p.A196T 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC DAG1 1605 genome.wustl.edu 37 3 49570228 49570228 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49570228 49570228 G T SNP DAG1 ENST00000308775 human ensembl 70_37 +1 known missense c.2284 p.A762S 1.000 pfam_DAG1 pfam_DAG1,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC DAP3 7818 genome.wustl.edu 37 1 155695905 155695905 + RNA DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 155695905 155695905 T - DEL DAP3 ENST00000471523 human ensembl 70_37 +1 known rna NULL NULL 0.109 - - - no_errors DAP3 HGNC DAPK3 1613 genome.wustl.edu 37 19 3964273 3964273 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3964273 3964273 G C SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known missense c.522 p.F174L 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,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC DBNL 28988 genome.wustl.edu 37 7 44100682 44100682 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44100682 44100682 G T SNP DBNL ENST00000497184 human ensembl 70_37 +1 known rna NULL NULL 0.424 - - - no_errors DBNL HGNC DCAF12L2 340578 genome.wustl.edu 37 X 125299273 125299273 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 125299273 125299273 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.635 p.S212F 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC DCBLD2 131566 genome.wustl.edu 37 3 98539110 98539110 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 98539110 98539110 A G SNP DCBLD2 ENST00000326857 human ensembl 70_37 -1 known missense c.853 p.F285L 1.000 superfamily_LCCL,pfscan_LCCL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC DCLK1 9201 genome.wustl.edu 37 13 36413287 36413287 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36413287 36413287 C T SNP DCLK1 ENST00000360631 human ensembl 70_37 -1 known silent c.1062 p.T354 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC DCLK3 85443 genome.wustl.edu 37 3 36756869 36756869 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 36756869 36756869 C G SNP DCLK3 ENST00000416516 human ensembl 70_37 -1 known missense c.1897 p.E633Q 0.987 superfamily_Kinase-like_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 DCLK3 HGNC DCLRE1C 64421 genome.wustl.edu 37 10 14961745 14961745 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 14961745 14961745 C T SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known missense c.1148 p.R383Q 0.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC DCUN1D3 123879 genome.wustl.edu 37 16 20871455 20871455 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 20871455 20871455 T C SNP DCUN1D3 ENST00000324344 human ensembl 70_37 -1 known missense c.668 p.Q223R 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D3 HGNC DDIT3 1649 genome.wustl.edu 37 12 57910641 57910641 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 57910641 57910641 G A SNP DDIT3 ENST00000551116 human ensembl 70_37 -1 known missense c.530 p.A177V 0.043 smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP - no_errors DDIT3 HGNC DDX1 1653 genome.wustl.edu 37 2 15743960 15743960 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 15743960 15743960 C T SNP DDX1 ENST00000233084 human ensembl 70_37 +1 known silent c.498 p.G166 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC DDX25 29118 genome.wustl.edu 37 11 125788628 125788628 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 125788628 125788628 C T SNP DDX25 ENST00000263576 human ensembl 70_37 +1 known nonsense c.1144 p.Q382* 0.999 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX25 HGNC DDX31 64794 genome.wustl.edu 37 9 135505740 135505740 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 135505740 135505740 G A SNP DDX31 ENST00000372153 human ensembl 70_37 -1 known missense c.1832 p.P611L 0.762 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC DDX56 54606 genome.wustl.edu 37 7 44605535 44605535 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44605535 44605535 G A SNP DDX56 ENST00000467318 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DDX56 HGNC DEFB1 1672 genome.wustl.edu 37 8 6728244 6728244 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 6728244 6728244 G C SNP DEFB1 ENST00000297439 human ensembl 70_37 -1 known missense c.166 p.Q56E 0.000 pfam_Defensin_beta-typ pfam_Defensin_beta-typ - no_errors DEFB1 HGNC DET1 55070 genome.wustl.edu 37 15 89074464 89074464 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 89074464 89074464 G A SNP DET1 ENST00000444300 human ensembl 70_37 -1 known missense c.506 p.S169L 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC DGKH 160851 genome.wustl.edu 37 13 42733412 42733412 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 42733412 42733412 C G SNP DGKH ENST00000337343 human ensembl 70_37 +1 known missense c.633 p.F211L 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC DGKK 139189 genome.wustl.edu 37 X 50131536 50131536 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 50131536 50131536 G A SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.213 - - - no_errors DGKK HGNC DGKK 139189 genome.wustl.edu 37 X 50167247 50167247 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 50167247 50167247 G A SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.869 - - - no_errors DGKK HGNC DGKZ 8525 genome.wustl.edu 37 11 46395776 46395776 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 46395776 46395776 G C SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.1960 p.E654Q 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC DHRS4L2 317749 genome.wustl.edu 37 14 24458159 24458159 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 24458159 24458159 G A SNP DHRS4L2 ENST00000335125 human ensembl 70_37 +1 known missense c.3 p.M1I 0.147 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS4L2 HGNC DHX15 1665 genome.wustl.edu 37 4 24534694 24534694 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 24534694 24534694 C T SNP DHX15 ENST00000512903 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DHX15 HGNC DHX38 9785 genome.wustl.edu 37 16 72142801 72142801 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 72142801 72142801 C T SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known missense c.3358 p.H1120Y 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC DIAPH2 1730 genome.wustl.edu 37 X 96200544 96200544 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 96200544 96200544 C T SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known missense c.1463 p.A488V 1.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC DIAPH3 81624 genome.wustl.edu 37 13 60453485 60453485 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 60453485 60453485 C G SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known missense c.2485 p.E829Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC DIRC2 84925 genome.wustl.edu 37 3 122564695 122564695 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 122564695 122564695 T G SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.919 p.L307V 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC DIS3L 115752 genome.wustl.edu 37 15 66612937 66612937 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 66612937 66612937 C T SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.1193 p.S398F 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC DLGAP1 9229 genome.wustl.edu 37 18 3534369 3534369 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 3534369 3534369 G T SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known missense c.2302 p.P768T 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC DMKN 93099 genome.wustl.edu 37 19 35990937 35990937 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35990937 35990937 G A SNP DMKN ENST00000469960 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DMKN HGNC DMRT1 1761 genome.wustl.edu 37 9 968024 968024 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 968024 968024 C T SNP DMRT1 ENST00000382276 human ensembl 70_37 +1 known missense c.1007 p.S336F 1.000 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC DMXL1 1657 genome.wustl.edu 37 5 118506868 118506868 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 118506868 118506868 T C SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.6382 p.S2128P 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC DMXL2 23312 genome.wustl.edu 37 15 51828558 51828558 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 51828558 51828558 G C SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.2119 p.L707V 0.986 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DNAH11 8701 genome.wustl.edu 37 7 21744077 21744077 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 21744077 21744077 T G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.6320 p.F2107C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH2 146754 genome.wustl.edu 37 17 7682665 7682665 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 7682665 7682665 C T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.5646 p.G1882 0.004 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH2 146754 genome.wustl.edu 37 17 7721130 7721130 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 7721130 7721130 C G SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.10192 p.Q3398E 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH7 56171 genome.wustl.edu 37 2 196729067 196729067 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 196729067 196729067 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.7312 p.R2438C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNAH7 56171 genome.wustl.edu 37 2 196738404 196738404 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 196738404 196738404 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.6301 p.P2101S 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNAH8 1769 genome.wustl.edu 37 6 38697749 38697749 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 38697749 38697749 T A SNP DNAH8 ENST00000449981 human ensembl 70_37 +1 known missense c.597 p.D199E 0.041 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAH9 1770 genome.wustl.edu 37 17 11535955 11535955 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 11535955 11535955 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known nonsense c.1570 p.R524* 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DNAJB6 10049 genome.wustl.edu 37 7 157208765 157208765 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 157208765 157208765 G C SNP DNAJB6 ENST00000262177 human ensembl 70_37 +1 known missense c.954 p.K318N 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB6 HGNC DNAJC13 23317 genome.wustl.edu 37 3 132224226 132224226 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 132224226 132224226 T G SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.4965 p.F1655L 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC DNAJC21 134218 genome.wustl.edu 37 5 34935831 34935831 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 34935831 34935831 G C SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.208 p.E70Q 1.000 superfamily_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC DNAJC27 51277 genome.wustl.edu 37 2 25181414 25181414 + Splice_Site SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 25181414 25181414 A G SNP DNAJC27 ENST00000380809 human ensembl 70_37 -1 known splice_site c.273+2 e4+2 0.421 - - - no_errors DNAJC27 HGNC DNMT1 1786 genome.wustl.edu 37 19 10262176 10262176 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10262176 10262176 G A SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known silent c.2163 p.V721 0.054 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC DOCK6 57572 genome.wustl.edu 37 19 11361763 11361763 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11361763 11361763 C G SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known splice_site c.508-1 e6-1 1.000 - - - no_errors DOCK6 HGNC DOCK9 23348 genome.wustl.edu 37 13 99667822 99667822 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 99667822 99667822 C T SNP DOCK9 ENST00000448493 human ensembl 70_37 -1 known missense c.41 p.R14H 1.000 NULL pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC DPP6 1804 genome.wustl.edu 37 7 154429554 154429554 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 154429554 154429554 A C SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known silent c.651 p.G217 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC DPP6 1804 genome.wustl.edu 37 7 154561192 154561192 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 154561192 154561192 G A SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known missense c.949 p.A317T 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC DPPA4 55211 genome.wustl.edu 37 3 109049375 109049375 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 109049375 109049375 G T SNP DPPA4 ENST00000335658 human ensembl 70_37 -1 known silent c.675 p.A225 0.000 NULL NULL - no_errors DPPA4 HGNC DPY19L1 23333 genome.wustl.edu 37 7 35050084 35050084 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 35050084 35050084 A T SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known missense c.541 p.L181I 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC DPYD 1806 genome.wustl.edu 37 1 98144663 98144663 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 98144663 98144663 A C SNP DPYD ENST00000370192 human ensembl 70_37 -1 known missense c.838 p.F280V 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC DTNB 1838 genome.wustl.edu 37 2 25851118 25851118 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 25851118 25851118 C T SNP DTNB ENST00000406818 human ensembl 70_37 -1 known missense c.284 p.R95H 1.000 pfam_EF-hand_dom_typ1,pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC DTX3 196403 genome.wustl.edu 37 12 58001319 58001319 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 58001319 58001319 G A SNP DTX3 ENST00000551632 human ensembl 70_37 +1 known missense c.682 p.A228T 0.991 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC DUXA 503835 genome.wustl.edu 37 19 57669800 57669800 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 57669800 57669800 G A SNP DUXA ENST00000554048 human ensembl 70_37 -1 known nonsense c.334 p.Q112* 0.013 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors DUXA HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102496561 102496561 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 102496561 102496561 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.9825 p.Q3275 0.745 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYSF 8291 genome.wustl.edu 37 2 71828536 71828536 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 71828536 71828536 G C SNP DYSF ENST00000472873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DYSF HGNC E4F1 1877 genome.wustl.edu 37 16 2285568 2285568 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2285568 2285568 G A SNP E4F1 ENST00000301727 human ensembl 70_37 +1 known missense c.2350 p.V784I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC EBF4 57593 genome.wustl.edu 37 20 2686630 2686630 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 2686630 2686630 C T SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.605 p.A202V 0.028 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC ECE2 9718 genome.wustl.edu 37 3 184009181 184009181 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 184009181 184009181 C T SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.2429 p.A810V 0.993 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ECHDC1 55862 genome.wustl.edu 37 6 127611226 127611226 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 127611226 127611226 C T SNP ECHDC1 ENST00000531967 human ensembl 70_37 -1 known missense c.712 p.E238K 1.000 NULL pfam_Crotonase_core - no_errors ECHDC1 HGNC ECM2 1842 genome.wustl.edu 37 9 95277023 95277023 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 95277023 95277023 C T SNP ECM2 ENST00000344604 human ensembl 70_37 -1 known missense c.944 p.R315H 0.253 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC EDNRB 1910 genome.wustl.edu 37 13 78492486 78492486 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 78492486 78492486 C T SNP EDNRB ENST00000334286 human ensembl 70_37 -1 known missense c.223 p.D75N 0.014 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC EFCAB3 146779 genome.wustl.edu 37 17 60493572 60493572 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 60493572 60493572 A G SNP EFCAB3 ENST00000450662 human ensembl 70_37 +1 known missense c.1355 p.Y452C 0.011 NULL pfscan_EF_HAND_2 - no_errors EFCAB3 HGNC EFCAB4A 283229 genome.wustl.edu 37 11 829993 829993 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 829993 829993 G T SNP EFCAB4A ENST00000450448 human ensembl 70_37 +1 known missense c.466 p.A156S 0.026 NULL pfscan_EF_HAND_2 - no_errors EFCAB4A HGNC EFCAB6 64800 genome.wustl.edu 37 22 44063043 44063043 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 44063043 44063043 G A SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known nonsense c.1924 p.R642* 0.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC EFNB1 1947 genome.wustl.edu 37 X 68058517 68058517 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 68058517 68058517 C T SNP EFNB1 ENST00000204961 human ensembl 70_37 +1 known silent c.186 p.I62 1.000 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC EFNB2 1948 genome.wustl.edu 37 13 107145421 107145421 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 107145421 107145421 C T SNP EFNB2 ENST00000245323 human ensembl 70_37 -1 known silent c.969 p.P323 0.127 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC EGR1 1958 genome.wustl.edu 37 5 137803396 137803396 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 137803396 137803396 C T SNP EGR1 ENST00000239938 human ensembl 70_37 +1 known missense c.1258 p.R420W 0.892 pfscan_Znf_C2H2 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC EHMT1 79813 genome.wustl.edu 37 9 140707511 140707511 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 140707511 140707511 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.2921 p.T974M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC EIF3A 8661 genome.wustl.edu 37 10 120818980 120818980 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 120818980 120818980 C T SNP EIF3A ENST00000462527 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF3A HGNC ELL 8178 genome.wustl.edu 37 19 18572600 18572600 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 18572600 18572600 G A SNP ELL ENST00000262809 human ensembl 70_37 -1 known missense c.532 p.R178W 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC EML6 400954 genome.wustl.edu 37 2 55077237 55077237 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 55077237 55077237 G A SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel silent c.1326 p.K442 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC EMR1 2015 genome.wustl.edu 37 19 6937311 6937311 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6937311 6937311 G A SNP EMR1 ENST00000312053 human ensembl 70_37 +1 known silent c.2439 p.L813 0.955 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENPP2 5168 genome.wustl.edu 37 8 120575239 120575239 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 120575239 120575239 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.2435 p.S812N 0.991 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENPP2 5168 genome.wustl.edu 37 8 120595987 120595987 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 120595987 120595987 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.1669 p.E557K 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000177596 0 genome.wustl.edu 37 13 74988828 74988828 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 74988828 74988828 G A SNP ENSG00000177596 ENST00000325811 human ensembl 70_37 -1 known nonsense c.289 p.Q97* 0.001 NULL NULL - no_errors AL355390.1 Clone_based_ensembl_gene ENSG00000196893 0 genome.wustl.edu 37 17 18855668 18855668 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 18855668 18855668 C T SNP ENSG00000196893 ENST00000354432 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC090286.4 Clone_based_vega_gene ENSG00000197182 0 genome.wustl.edu 37 22 46501603 46501603 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 46501603 46501603 C G SNP ENSG00000197182 ENST00000381051 human ensembl 70_37 +1 putative silent c.522 p.A174 0.008 NULL NULL - no_errors FLJ27365 Uniprot_genename ENSG00000204929 0 genome.wustl.edu 37 2 65919065 65919065 + RNA SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 65919065 65919065 T A SNP ENSG00000204929 ENST00000377977 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC074391.1 Clone_based_vega_gene ENSG00000205830 0 genome.wustl.edu 37 4 27209444 27209444 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 27209444 27209444 A C SNP ENSG00000205830 ENST00000382007 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC024132.1 Clone_based_vega_gene ENSG00000205971 0 genome.wustl.edu 37 7 1733361 1733361 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 1733361 1733361 G A SNP ENSG00000205971 ENST00000382528 human ensembl 70_37 -1 putative silent c.171 p.S57 0.003 NULL NULL - no_errors AC074389.6 Clone_based_vega_gene ENSG00000214797 0 genome.wustl.edu 37 11 59038010 59038011 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 59038010 59038011 - A INS ENSG00000214797 ENST00000399003 human ensembl 70_37 -1 known rna NULL NULL 0.006:0.000 - - - no_errors RP11-1036E20.9 Clone_based_vega_gene ENSG00000221096 0 genome.wustl.edu 37 15 59443250 59443250 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 59443250 59443250 G A SNP ENSG00000221096 ENST00000408169 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC092757.1 Clone_based_ensembl_gene ENSG00000221145 0 genome.wustl.edu 37 1 192460261 192460264 + RNA DEL TGTG TGTG - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 TGTG TGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 192460261 192460264 TGTG - DEL ENSG00000221145 ENST00000408218 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.002:0.002:0.001 - - - no_errors AL136987.1 Clone_based_ensembl_gene ENSG00000222482 0 genome.wustl.edu 37 7 99817715 99817715 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 99817715 99817715 C T SNP ENSG00000222482 ENST00000410550 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC005071.1 Clone_based_ensembl_gene ENSG00000223231 0 genome.wustl.edu 37 1 84259638 84259638 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 84259638 84259638 A - DEL ENSG00000223231 ENST00000411299 human ensembl 70_37 +1 novel rna NULL NULL 0.062 - - - no_errors AL035706.1 Clone_based_ensembl_gene ENSG00000225315 0 genome.wustl.edu 37 1 24390550 24390550 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 24390550 24390550 G A SNP ENSG00000225315 ENST00000439239 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-293P20.2 Clone_based_vega_gene ENSG00000225606 0 genome.wustl.edu 37 7 12610016 12610016 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 12610016 12610016 C T SNP ENSG00000225606 ENST00000433040 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005281.2 Clone_based_vega_gene ENSG00000225872 0 genome.wustl.edu 37 19 36283127 36283127 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36283127 36283127 G A SNP ENSG00000225872 ENST00000567313 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.5 Clone_based_vega_gene ENSG00000225914 0 genome.wustl.edu 37 6 32231726 32231727 + RNA INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32231726 32231727 - T INS ENSG00000225914 ENST00000425033 human ensembl 70_37 +1 known rna NULL NULL 0.372:0.374 - - - no_errors XXbac-BPG154L12.4 Clone_based_vega_gene ENSG00000227582 0 genome.wustl.edu 37 9 66517208 66517208 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 66517208 66517208 C T SNP ENSG00000227582 ENST00000590130 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000229481 0 genome.wustl.edu 37 19 38321988 38321988 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38321988 38321988 A G SNP ENSG00000229481 ENST00000443870 human ensembl 70_37 +1 known rna NULL NULL 0.952 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 0 genome.wustl.edu 37 19 38322049 38322049 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38322049 38322049 G A SNP ENSG00000229481 ENST00000443870 human ensembl 70_37 +1 known rna NULL NULL 0.514 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229569 0 genome.wustl.edu 37 10 80763446 80763446 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 80763446 80763446 G C SNP ENSG00000229569 ENST00000427035 human ensembl 70_37 -1 known rna NULL NULL 0.197 - - - no_errors RP11-481G8.2 Clone_based_vega_gene ENSG00000235522 0 genome.wustl.edu 37 2 106471800 106471800 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 106471800 106471800 C T SNP ENSG00000235522 ENST00000598281 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC009505.2 Clone_based_vega_gene ENSG00000237452 0 genome.wustl.edu 37 19 46259260 46259260 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46259260 46259260 G A SNP ENSG00000237452 ENST00000457052 human ensembl 70_37 +1 putative missense c.835 p.A279T 0.000 NULL pfam_HMG_superfamily,pfam_HLH_dom,superfamily_HMG_superfamily,superfamily_HLH_dom,smart_HMG_superfamily,pfscan_HLH_dom,pfscan_HMG_superfamily - no_errors AC074212.3 Clone_based_vega_gene ENSG00000238021 0 genome.wustl.edu 37 10 27551888 27551888 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 27551888 27551888 C T SNP ENSG00000238021 ENST00000576034 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-748L13.1 Clone_based_vega_gene ENSG00000244681 0 genome.wustl.edu 37 3 95374193 95374193 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 95374193 95374193 C G SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000249034 0 genome.wustl.edu 37 5 140242427 140242427 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140242427 140242427 G A SNP ENSG00000249034 ENST00000502505 human ensembl 70_37 -1 known silent c.549 p.G183 0.551 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000250240 0 genome.wustl.edu 37 5 95067902 95067902 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 95067902 95067902 C T SNP ENSG00000250240 ENST00000512486 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2154I11.2 Clone_based_vega_gene ENSG00000257495 0 genome.wustl.edu 37 12 53004386 53004386 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 53004386 53004386 C A SNP ENSG00000257495 ENST00000552364 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000258345 0 genome.wustl.edu 37 12 56512855 56512856 + RNA INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 56512855 56512856 - T INS ENSG00000258345 ENST00000550840 human ensembl 70_37 -1 known rna NULL NULL 0.006:0.036 - - - no_errors RP11-603J24.6 Clone_based_vega_gene ENSG00000260235 0 genome.wustl.edu 37 15 75917230 75917230 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 75917230 75917230 C T SNP ENSG00000260235 ENST00000566036 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors CTD-2026K11.3 Clone_based_vega_gene ENSG00000261711 0 genome.wustl.edu 37 16 34712972 34712972 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 34712972 34712972 A C SNP ENSG00000261711 ENST00000569028 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000267427 0 genome.wustl.edu 37 19 6211408 6211408 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6211408 6211408 G T SNP ENSG00000267427 ENST00000586154 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTC-503J8.6 Clone_based_vega_gene ENSG00000267531 0 genome.wustl.edu 37 19 55856278 55856278 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 55856278 55856278 G A SNP ENSG00000267531 ENST00000539076 human ensembl 70_37 +1 known missense c.184 p.D62N 0.000 NULL NULL - no_errors SUV420H2 Uniprot_genename ENSG00000267548 0 genome.wustl.edu 37 17 40128491 40128491 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40128491 40128491 T C SNP ENSG00000267548 ENST00000590979 human ensembl 70_37 +1 known rna NULL NULL 0.859 - - - no_errors RP11-229E13.2 Clone_based_vega_gene ENSG00000268241 0 genome.wustl.edu 37 2 175201865 175201865 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 175201865 175201865 C T SNP ENSG00000268241 ENST00000595354 human ensembl 70_37 -1 known missense c.287 p.R96H 1.000 NULL NULL - no_errors AC018470.1 Clone_based_ensembl_gene ENSG00000269636 0 genome.wustl.edu 37 5 150158371 150158371 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 150158371 150158371 C A SNP ENSG00000269636 ENST00000600109 human ensembl 70_37 +1 known silent c.240 p.P80 0.009 NULL NULL - no_errors AC010441.1 Clone_based_ensembl_gene ENTHD2 146705 genome.wustl.edu 37 17 79202880 79202880 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 79202880 79202880 G A SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known silent c.1426 p.L476 1.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC EP300 2033 genome.wustl.edu 37 22 41537053 41537053 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 41537053 41537053 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.1880 p.A627V 1.000 pfam_KIX,superfamily_KIX,pfscan_KIX pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EPB41L2 2037 genome.wustl.edu 37 6 131179308 131179308 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 131179308 131179308 C G SNP EPB41L2 ENST00000337057 human ensembl 70_37 -1 known missense c.2986 p.E996Q 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L2 HGNC EPHA5 2044 genome.wustl.edu 37 4 66361197 66361197 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 66361197 66361197 G T SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.975 p.H325Q 1.000 superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC EPHB3 2049 genome.wustl.edu 37 3 184294913 184294913 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 184294913 184294913 G A SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known silent c.1296 p.S432 0.964 pfam_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC EPN1 29924 genome.wustl.edu 37 19 56196968 56196968 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56196968 56196968 G A SNP EPN1 ENST00000411543 human ensembl 70_37 +1 known silent c.768 p.A256 0.951 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC EPS15 2060 genome.wustl.edu 37 1 51912772 51912772 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 51912772 51912772 A T SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known silent c.657 p.V219 1.000 smart_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ERCC5 2073 genome.wustl.edu 37 13 103514517 103514517 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 103514517 103514517 C G SNP ERCC5 ENST00000355739 human ensembl 70_37 +1 known missense c.1018 p.P340A 1.000 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ERVH48-1 90625 genome.wustl.edu 37 21 44345495 44345495 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 44345495 44345495 G T SNP ERVH48-1 ENST00000447535 human ensembl 70_37 -1 known rna NULL NULL 0.121 - - - no_errors ERVH48-1 HGNC ESYT2 57488 genome.wustl.edu 37 7 158534254 158534254 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 158534254 158534254 C T SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.2209 p.A737T 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ETAA1 54465 genome.wustl.edu 37 2 67631408 67631408 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 67631408 67631408 C T SNP ETAA1 ENST00000272342 human ensembl 70_37 +1 known nonsense c.1594 p.Q532* 0.026 NULL NULL - no_errors ETAA1 HGNC ETFB 2109 genome.wustl.edu 37 19 51857829 51857829 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51857829 51857829 T G SNP ETFB ENST00000354232 human ensembl 70_37 -1 known silent c.64 p.R22 0.001 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ETV3L 440695 genome.wustl.edu 37 1 157067741 157067741 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157067741 157067741 C T SNP ETV3L ENST00000454449 human ensembl 70_37 -1 known missense c.526 p.E176K 0.637 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV3L HGNC EVA1A 84141 genome.wustl.edu 37 2 75720574 75720574 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 75720574 75720574 C T SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known missense c.247 p.D83N 1.000 NULL NULL - no_errors EVA1A HGNC EVPL 2125 genome.wustl.edu 37 17 74018065 74018065 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 74018065 74018065 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known silent c.690 p.T230 0.343 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC EXOC4 60412 genome.wustl.edu 37 7 133622807 133622807 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 133622807 133622807 C G SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known missense c.2191 p.L731V 0.994 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC EXOC6B 23233 genome.wustl.edu 37 2 72945400 72945400 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 72945400 72945400 C T SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known silent c.501 p.E167 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC EXOC8 149371 genome.wustl.edu 37 1 231472726 231472726 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 231472726 231472726 A C SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.766 p.F256V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC EXOSC10 5394 genome.wustl.edu 37 1 11141202 11141202 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 11141202 11141202 G A SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known silent c.1374 p.R458 0.258 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC EYS 346007 genome.wustl.edu 37 6 65767564 65767564 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 65767564 65767564 C A SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.2080 p.A694S 0.999 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC EZR 7430 genome.wustl.edu 37 6 159188022 159188022 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 159188022 159188022 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1685 p.R562Q 1.000 pirsf_ERM,pfam_ERM_C,superfamily_Moesin,prints_Ez/rad/moesin pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC F11R 50848 genome.wustl.edu 37 1 160970817 160970817 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 160970817 160970817 C G SNP F11R ENST00000436182 human ensembl 70_37 -1 known missense c.246 p.K82N 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors F11R HGNC F7 2155 genome.wustl.edu 37 13 113768192 113768192 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 113768192 113768192 G C SNP F7 ENST00000375581 human ensembl 70_37 +1 known missense c.348 p.Q116H 1.000 pfam_EG-like_dom,superfamily_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pept_S1A_FX,pfscan_EG-like_dom pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F7 HGNC F8 2157 genome.wustl.edu 37 X 154066024 154066024 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 154066024 154066024 A G SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.6904 p.F2302L 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC F9 2158 genome.wustl.edu 37 X 138643724 138643724 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 138643724 138643724 C T SNP F9 ENST00000218099 human ensembl 70_37 +1 known nonsense c.880 p.R294* 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC FAM120AOS 158293 genome.wustl.edu 37 9 96212837 96212837 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 96212837 96212837 C A SNP FAM120AOS ENST00000375412 human ensembl 70_37 -1 known missense c.608 p.G203V 0.000 NULL NULL - no_errors FAM120AOS HGNC FAM151A 338094 genome.wustl.edu 37 1 55081757 55081757 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 55081757 55081757 G - DEL FAM151A ENST00000302250 human ensembl 70_37 -1 known frame_shift_del c.351 p.T118fs 0.037 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC FAM171A1 221061 genome.wustl.edu 37 10 15296873 15296873 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 15296873 15296873 G A SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known missense c.424 p.R142W 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC FAM173B 134145 genome.wustl.edu 37 5 10239358 10239358 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 10239358 10239358 G A SNP FAM173B ENST00000511437 human ensembl 70_37 -1 known missense c.127 p.L43F 0.056 NULL NULL - no_errors FAM173B HGNC FAM180A 389558 genome.wustl.edu 37 7 135418889 135418889 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 135418889 135418889 T G SNP FAM180A ENST00000338588 human ensembl 70_37 -1 known missense c.356 p.K119T 0.821 NULL NULL - no_errors FAM180A HGNC FAM180A 389558 genome.wustl.edu 37 7 135418976 135418976 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 135418976 135418976 C T SNP FAM180A ENST00000338588 human ensembl 70_37 -1 known missense c.269 p.R90H 0.001 NULL NULL - no_errors FAM180A HGNC FAM186A 121006 genome.wustl.edu 37 12 50748028 50748028 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 50748028 50748028 C T SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known missense c.2587 p.E863K 0.000 NULL NULL - no_errors FAM186A HGNC FAM187B 148109 genome.wustl.edu 37 19 35715967 35715967 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35715967 35715967 C T SNP FAM187B ENST00000324675 human ensembl 70_37 -1 known missense c.871 p.E291K 0.970 NULL NULL - no_errors FAM187B HGNC FAM189A1 23359 genome.wustl.edu 37 15 29415702 29415702 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 29415702 29415702 G A SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known missense c.1460 p.A487V 0.967 NULL pfam_CD20-like - no_errors FAM189A1 HGNC TVP23C 201158 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 15441469 15441469 C T SNP FAM18B2 ENST00000523573 human ensembl 70_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors FAM18B2 HGNC FAM193B 54540 genome.wustl.edu 37 5 176966139 176966140 + Frame_Shift_Ins INS - - GG TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 176966139 176966140 - GG INS FAM193B ENST00000514747 human ensembl 70_37 -1 novel frame_shift_ins c.220_219 p.A73fs 0.001:0.001 NULL NULL - no_errors FAM193B HGNC FAM194A 131831 genome.wustl.edu 37 3 150404106 150404106 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 150404106 150404106 A T SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.589 p.C197S 0.000 NULL NULL - no_errors FAM194A HGNC FAM198B 51313 genome.wustl.edu 37 4 159048577 159048577 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 159048577 159048577 T C SNP FAM198B ENST00000393807 human ensembl 70_37 -1 known silent c.1566 p.V522 0.000 NULL NULL - no_errors FAM198B HGNC FAM19A3 284467 genome.wustl.edu 37 1 113265740 113265740 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 113265740 113265740 C T SNP FAM19A3 ENST00000369630 human ensembl 70_37 +1 known missense c.218 p.S73F 0.975 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A3 HGNC FAM200B 285550 genome.wustl.edu 37 4 15689274 15689274 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 15689274 15689274 T C SNP FAM200B ENST00000422728 human ensembl 70_37 +1 putative missense c.674 p.F225S 0.980 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC FAM205A 259308 genome.wustl.edu 37 9 34724853 34724853 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 34724853 34724853 G A SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.2384 p.A795V 0.998 NULL NULL - no_errors FAM205A HGNC NUTM2D 728130 genome.wustl.edu 37 10 89118101 89118101 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 89118101 89118101 C G SNP FAM22D ENST00000381697 human ensembl 70_37 +1 known missense c.79 p.L27V 0.014 NULL NULL - no_errors FAM22D HGNC FAM46A 55603 genome.wustl.edu 37 6 82459822 82459822 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 82459822 82459822 C T SNP FAM46A ENST00000369756 human ensembl 70_37 -1 known missense c.1162 p.A388T 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC FAM47A 158724 genome.wustl.edu 37 X 34148613 34148613 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 34148613 34148613 C T SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known missense c.1783 p.V595I 0.000 NULL NULL - no_errors FAM47A HGNC FAM83E 54854 genome.wustl.edu 37 19 49116504 49116504 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 49116504 49116504 G A SNP FAM83E ENST00000263266 human ensembl 70_37 -1 known silent c.126 p.G42 0.000 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC FAM84A 151354 genome.wustl.edu 37 2 14774273 14774273 + Frame_Shift_Del DEL C C - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 14774273 14774273 C - DEL FAM84A ENST00000295092 human ensembl 70_37 +1 known frame_shift_del c.170 p.P59fs 0.532 NULL pfam_LRAT-like_dom - no_errors FAM84A HGNC FANCD2OS 115795 genome.wustl.edu 37 3 10146175 10146175 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 10146175 10146175 C T SNP FANCD2OS ENST00000450660 human ensembl 70_37 -1 known missense c.284 p.R95H 1.000 NULL NULL - no_errors FANCD2OS HGNC FANCF 2188 genome.wustl.edu 37 11 22647304 22647304 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 22647304 22647304 G A SNP FANCF ENST00000327470 human ensembl 70_37 -1 known missense c.53 p.S18L 0.804 NULL NULL - no_errors FANCF HGNC FARP2 9855 genome.wustl.edu 37 2 242350463 242350463 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 242350463 242350463 G A SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known silent c.426 p.L142 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC FAT3 120114 genome.wustl.edu 37 11 92085607 92085607 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 92085607 92085607 A C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.329 p.K110T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FAXC 84553 genome.wustl.edu 37 6 99771499 99771499 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 99771499 99771499 C A SNP FAXC ENST00000389677 human ensembl 70_37 -1 known missense c.644 p.R215L 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC FBXL19-AS1 283932 genome.wustl.edu 37 16 30934042 30934042 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 30934042 30934042 C T SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXL19-AS1 HGNC FBXO11 80204 genome.wustl.edu 37 2 48036826 48036826 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 48036826 48036826 C T SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.2359 p.A787T 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC FBXO41 150726 genome.wustl.edu 37 2 73491083 73491083 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 73491083 73491083 C A SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known missense c.2088 p.E696D 0.997 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC FBXW8 26259 genome.wustl.edu 37 12 117426499 117426499 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 117426499 117426499 G C SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known missense c.1064 p.R355T 0.240 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC FCGBP 8857 genome.wustl.edu 37 19 40362851 40362851 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 40362851 40362851 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.15219 p.F5073 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCRL1 115350 genome.wustl.edu 37 1 157769850 157769850 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157769850 157769850 G T SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known silent c.1029 p.L343 0.973 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC FCRL4 83417 genome.wustl.edu 37 1 157559012 157559012 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157559012 157559012 G A SNP FCRL4 ENST00000271532 human ensembl 70_37 -1 known missense c.289 p.R97C 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL4 HGNC FCRLA 84824 genome.wustl.edu 37 1 161680414 161680415 + RNA DEL AA AA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 161680414 161680415 AA - DEL FCRLA ENST00000470841 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors FCRLA HGNC FEZF1 389549 genome.wustl.edu 37 7 121943727 121943727 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 121943727 121943727 G T SNP FEZF1 ENST00000442488 human ensembl 70_37 -1 known silent c.765 p.A255 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC FFAR2 2867 genome.wustl.edu 37 19 35940660 35940660 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35940660 35940660 T G SNP FFAR2 ENST00000246549 human ensembl 70_37 +1 known missense c.44 p.I15S 0.556 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors FFAR2 HGNC FGF5 2250 genome.wustl.edu 37 4 81189522 81189522 + RNA SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 81189522 81189522 A T SNP FGF5 ENST00000503413 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FGF5 HGNC FGFBP2 83888 genome.wustl.edu 37 4 15964094 15964094 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 15964094 15964094 A G SNP FGFBP2 ENST00000259989 human ensembl 70_37 -1 known missense c.659 p.F220S 0.890 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP2 HGNC FGFRL1 53834 genome.wustl.edu 37 4 1019054 1019055 + Frame_Shift_Ins INS - - CA TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 1019054 1019055 - CA INS FGFRL1 ENST00000264748 human ensembl 70_37 +1 known frame_shift_ins c.1434_1435 p.T482fs 0.994:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC FHDC1 85462 genome.wustl.edu 37 4 153897850 153897850 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 153897850 153897850 G C SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.3407 p.R1136T 0.051 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC FHL3 2275 genome.wustl.edu 37 1 38465035 38465035 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 38465035 38465035 C T SNP FHL3 ENST00000373016 human ensembl 70_37 -1 known missense c.50 p.R17H 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL3 HGNC FHL5 9457 genome.wustl.edu 37 6 97058570 97058570 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 97058570 97058570 C G SNP FHL5 ENST00000326771 human ensembl 70_37 +1 known missense c.627 p.F209L 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC FIGN 55137 genome.wustl.edu 37 2 164467451 164467451 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 164467451 164467451 G A SNP FIGN ENST00000333129 human ensembl 70_37 -1 known silent c.891 p.G297 0.998 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC FILIP1 27145 genome.wustl.edu 37 6 76022902 76022902 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 76022902 76022902 G A SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known silent c.2646 p.I882 0.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC FILIP1 27145 genome.wustl.edu 37 6 76124534 76124534 + Nonsense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 76124534 76124534 G C SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known nonsense c.155 p.S52* 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC FJX1 24147 genome.wustl.edu 37 11 35642192 35642192 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 35642192 35642192 C G SNP FJX1 ENST00000532914 human ensembl 70_37 +1 putative rna NULL NULL 0.824 - - - no_errors FJX1 HGNC FKBP4 2288 genome.wustl.edu 37 12 2907010 2907011 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 2907010 2907011 - C INS FKBP4 ENST00000001008 human ensembl 70_37 +1 known frame_shift_ins c.366_367 p.N124fs 0.968:1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC FKBP8 23770 genome.wustl.edu 37 19 18643565 18643565 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 18643565 18643565 G A SNP FKBP8 ENST00000453489 human ensembl 70_37 -1 known missense c.1148 p.A383V 0.995 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC FKRP 79147 genome.wustl.edu 37 19 47259271 47259272 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 47259271 47259272 - C INS FKRP ENST00000318584 human ensembl 70_37 +1 known frame_shift_ins c.564_565 p.R189fs 0.000:0.062 NULL pfam_LicD - no_errors FKRP HGNC FLT4 2324 genome.wustl.edu 37 5 180057000 180057000 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 180057000 180057000 C T SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.619 p.E207K 0.973 prints_Tyr_kinase_VEGFR3_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC FMN2 56776 genome.wustl.edu 37 1 240255561 240255561 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 240255561 240255561 G A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.152 p.G51E 1.000 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC FMO9P 116123 genome.wustl.edu 37 1 166581802 166581802 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 166581802 166581802 G C SNP FMO9P ENST00000477875 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FMO9P HGNC FNDC7 163479 genome.wustl.edu 37 1 109276098 109276098 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109276098 109276098 C T SNP FNDC7 ENST00000271311 human ensembl 70_37 +1 known missense c.2087 p.S696L 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC FOLH1B 219595 genome.wustl.edu 37 11 89395390 89395390 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 89395390 89395390 A G SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors FOLH1B HGNC FOXP1 27086 genome.wustl.edu 37 3 71021296 71021296 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 71021296 71021296 G T SNP FOXP1 ENST00000327590 human ensembl 70_37 -1 known missense c.1688 p.A563D 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC FOXP1 27086 genome.wustl.edu 37 3 71179726 71179726 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 71179726 71179726 C T SNP FOXP1 ENST00000491238 human ensembl 70_37 -1 putative missense c.109 p.E37K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC FPR2 2358 genome.wustl.edu 37 19 52272492 52272492 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52272492 52272492 C T SNP FPR2 ENST00000340023 human ensembl 70_37 +1 known missense c.581 p.A194V 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC FREM2 341640 genome.wustl.edu 37 13 39262583 39262583 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 39262583 39262583 G T SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.1102 p.G368C 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC FRMPD3 84443 genome.wustl.edu 37 X 106845537 106845537 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 106845537 106845537 G A SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.4367 p.R1456K 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC FSCN2 25794 genome.wustl.edu 37 17 79503718 79503718 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 79503718 79503718 C T SNP FSCN2 ENST00000334850 human ensembl 70_37 +1 known silent c.1248 p.F416 0.996 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC FSHR 2492 genome.wustl.edu 37 2 49195912 49195912 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 49195912 49195912 T G SNP FSHR ENST00000406846 human ensembl 70_37 -1 known missense c.779 p.K260T 0.395 NULL pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors FSHR HGNC FSIP2 401024 genome.wustl.edu 37 2 186609076 186609076 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 186609076 186609076 A C SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.682 p.K228Q 1.000 NULL NULL - no_errors FSIP2 HGNC FSIP2 401024 genome.wustl.edu 37 2 186667087 186667087 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 186667087 186667087 C G SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.13321 p.H4441D 0.002 NULL NULL - no_errors FSIP2 HGNC FUK 197258 genome.wustl.edu 37 16 70513169 70513169 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 70513169 70513169 C T SNP FUK ENST00000378912 human ensembl 70_37 +1 known missense c.3034 p.R1012W 0.999 pfam_GHMP_kinase_C_dom pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC FUT9 10690 genome.wustl.edu 37 6 96651276 96651276 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 96651276 96651276 G A SNP FUT9 ENST00000302103 human ensembl 70_37 +1 known missense c.245 p.C82Y 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC FXYD3 5349 genome.wustl.edu 37 19 35613710 35613710 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35613710 35613710 G T SNP FXYD3 ENST00000435734 human ensembl 70_37 +1 known missense c.310 p.V104F 0.001 pfam_Ion-transport_regulator_FXYD pfam_Ion-transport_regulator_FXYD - no_errors FXYD3 HGNC FZD10 11211 genome.wustl.edu 37 12 130648507 130648507 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 130648507 130648507 G A SNP FZD10 ENST00000539839 human ensembl 70_37 +1 known missense c.922 p.E308K 1.000 NULL NULL - no_errors FZD10 HGNC FZD4 8322 genome.wustl.edu 37 11 86665856 86665856 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 86665856 86665856 G C SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known missense c.272 p.S91C 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC GABBR2 9568 genome.wustl.edu 37 9 101056174 101056174 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 101056174 101056174 C A SNP GABBR2 ENST00000259455 human ensembl 70_37 -1 known missense c.2553 p.K851N 1.000 prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3 - no_errors GABBR2 HGNC GABRQ 55879 genome.wustl.edu 37 X 151821378 151821378 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 151821378 151821378 C T SNP GABRQ ENST00000370306 human ensembl 70_37 +1 known silent c.1533 p.G511 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC GAD1 2571 genome.wustl.edu 37 2 171710457 171710457 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 171710457 171710457 C T SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known silent c.1338 p.Y446 0.007 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC GALNT14 79623 genome.wustl.edu 37 2 31215713 31215713 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 31215713 31215713 C T SNP GALNT14 ENST00000349752 human ensembl 70_37 -1 known missense c.290 p.R97H 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC GANAB 23193 genome.wustl.edu 37 11 62393834 62393834 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 62393834 62393834 G A SNP GANAB ENST00000346178 human ensembl 70_37 -1 known missense c.2663 p.S888L 0.968 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC GAP43 2596 genome.wustl.edu 37 3 115394992 115394992 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 115394992 115394992 A G SNP GAP43 ENST00000305124 human ensembl 70_37 +1 known missense c.163 p.K55E 1.000 pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC GBX2 2637 genome.wustl.edu 37 2 237074503 237074503 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 237074503 237074503 C A SNP GBX2 ENST00000465889 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors GBX2 HGNC GBX2 2637 genome.wustl.edu 37 2 237074607 237074607 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 237074607 237074607 T G SNP GBX2 ENST00000306318 human ensembl 70_37 -1 known silent c.997 p.R333 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GBX2 HGNC GCAT 23464 genome.wustl.edu 37 22 38206067 38206067 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 38206067 38206067 G A SNP GCAT ENST00000248924 human ensembl 70_37 +1 known missense c.230 p.G77D 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC GCDH 2639 genome.wustl.edu 37 19 13008169 13008169 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 13008169 13008169 G T SNP GCDH ENST00000222214 human ensembl 70_37 +1 known missense c.1009 p.A337S 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC GDA 9615 genome.wustl.edu 37 9 74834422 74834422 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 74834422 74834422 C T SNP GDA ENST00000238018 human ensembl 70_37 +1 known silent c.606 p.N202 0.161 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC GDI1 2664 genome.wustl.edu 37 X 153670149 153670149 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153670149 153670149 G T SNP GDI1 ENST00000465640 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GDI1 HGNC GFOD1 54438 genome.wustl.edu 37 6 13365254 13365254 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 13365254 13365254 G T SNP GFOD1 ENST00000379287 human ensembl 70_37 -1 known silent c.894 p.I298 1.000 NULL pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC GHDC 84514 genome.wustl.edu 37 17 40342753 40342753 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40342753 40342753 G A SNP GHDC ENST00000301671 human ensembl 70_37 -1 known nonsense c.1177 p.R393* 0.988 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC GINS2 51659 genome.wustl.edu 37 16 85711932 85711932 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 85711932 85711932 C T SNP GINS2 ENST00000253462 human ensembl 70_37 -1 known silent c.444 p.L148 1.000 pfam_GINS_complex,pirsf_GINS_Psf2_subgr pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC GLMN 11146 genome.wustl.edu 37 1 92713518 92713518 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 92713518 92713518 A C SNP GLMN ENST00000370360 human ensembl 70_37 -1 known missense c.1502 p.I501S 1.000 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC GLO1 2739 genome.wustl.edu 37 6 38645133 38645133 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 38645133 38645133 G C SNP GLO1 ENST00000373365 human ensembl 70_37 -1 known missense c.493 p.Q165E 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 - no_errors GLO1 HGNC GLS2 27165 genome.wustl.edu 37 12 56873669 56873669 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 56873669 56873669 C G SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known missense c.299 p.G100A 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC GMFG 9535 genome.wustl.edu 37 19 39819686 39819686 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 39819686 39819686 T C SNP GMFG ENST00000597595 human ensembl 70_37 -1 known missense c.311 p.Y104C 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC GNB1L 54584 genome.wustl.edu 37 22 19776198 19776198 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 19776198 19776198 G A SNP GNB1L ENST00000460402 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GNB1L HGNC GNG5P2 347687 genome.wustl.edu 37 X 109590048 109590048 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 109590048 109590048 C T SNP GNG5P2 ENST00000372054 human ensembl 70_37 -1 known silent c.90 p.Q30 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG5P2 HGNC GNG5P2 347687 genome.wustl.edu 37 X 109590054 109590054 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 109590054 109590054 A C SNP GNG5P2 ENST00000372054 human ensembl 70_37 -1 known silent c.84 p.V28 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG5P2 HGNC GNL2 29889 genome.wustl.edu 37 1 38061361 38061361 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 38061361 38061361 T A SNP GNL2 ENST00000373062 human ensembl 70_37 -1 known silent c.63 p.P21 0.460 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC GNL3 26354 genome.wustl.edu 37 3 52723096 52723096 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 52723096 52723096 G A SNP GNL3 ENST00000418458 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_Gnl3_N_dom,pfam_GTP_binding_domain - no_errors GNL3 HGNC GNN 253724 genome.wustl.edu 37 12 104283274 104283274 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 104283274 104283274 C T SNP GNN ENST00000548520 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-642P15.1 Clone_based_vega_gene GOLGB1 2804 genome.wustl.edu 37 3 121416739 121416739 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121416739 121416739 T A SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.2616 p.E872D 0.984 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLM1 51280 genome.wustl.edu 37 9 88692354 88692354 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 88692354 88692354 G A SNP GOLM1 ENST00000388711 human ensembl 70_37 -1 known silent c.282 p.S94 0.175 NULL NULL - no_errors GOLM1 HGNC GON4L 54856 genome.wustl.edu 37 1 155823435 155823435 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 155823435 155823435 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.137 p.S46L 0.020 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GPATCH8 23131 genome.wustl.edu 37 17 42477228 42477228 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 42477228 42477228 G A SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known silent c.2217 p.G739 0.998 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC GPBAR1 151306 genome.wustl.edu 37 2 219128094 219128094 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 219128094 219128094 G A SNP GPBAR1 ENST00000479077 human ensembl 70_37 +1 known missense c.647 p.R216Q 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPBAR1 HGNC GPR107 57720 genome.wustl.edu 37 9 132890943 132890943 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 132890943 132890943 G C SNP GPR107 ENST00000372406 human ensembl 70_37 +1 known missense c.1609 p.V537L 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain - no_errors GPR107 HGNC GPR116 221395 genome.wustl.edu 37 6 46867796 46867796 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 46867796 46867796 C A SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.127 p.G43C 0.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC GPR174 84636 genome.wustl.edu 37 X 78426874 78426874 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 78426874 78426874 T G SNP GPR174 ENST00000276077 human ensembl 70_37 +1 known missense c.370 p.F124V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC GPR21 2844 genome.wustl.edu 37 9 125797555 125797555 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 125797555 125797555 G T SNP GPR21 ENST00000373642 human ensembl 70_37 +1 known missense c.710 p.G237V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC GPR98 84059 genome.wustl.edu 37 5 89947494 89947494 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 89947494 89947494 T G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3363 p.F1121L 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPR98 84059 genome.wustl.edu 37 5 89947501 89947501 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 89947501 89947501 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3370 p.E1124K 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPR98 84059 genome.wustl.edu 37 5 90124775 90124775 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 90124775 90124775 A C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.16383 p.E5461D 0.979 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPS1 2873 genome.wustl.edu 37 17 80011870 80011870 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 80011870 80011870 A T SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known missense c.373 p.T125S 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC GPX8 493869 genome.wustl.edu 37 5 54456009 54456009 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 54456009 54456009 G A SNP GPX8 ENST00000502733 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors GPX8 HGNC GRIN2B 2904 genome.wustl.edu 37 12 13906621 13906621 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 13906621 13906621 A C SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known missense c.640 p.S214A 1.000 pfam_ANF_lig-bd_rcpt 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 GRIN2B HGNC GRIP2 80852 genome.wustl.edu 37 3 14535166 14535166 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 14535166 14535166 G A SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GRIP2 HGNC GRIPAP1 56850 genome.wustl.edu 37 X 48855595 48855595 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48855595 48855595 G C SNP GRIPAP1 ENST00000495258 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors GRIPAP1 HGNC GRK1 6011 genome.wustl.edu 37 13 114321720 114321720 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 114321720 114321720 G A SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.19 p.E7K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC GSDMD 79792 genome.wustl.edu 37 8 144641548 144641548 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 144641548 144641548 G C SNP GSDMD ENST00000262580 human ensembl 70_37 +1 known missense c.43 p.E15Q 0.986 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMD HGNC GSE1 23199 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 70_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC GSG2 83903 genome.wustl.edu 37 17 3629039 3629039 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 3629039 3629039 G C SNP GSG2 ENST00000325418 human ensembl 70_37 +1 known missense c.1810 p.E604Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors GSG2 HGNC GSK3A 2931 genome.wustl.edu 37 19 42735003 42735003 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 42735003 42735003 C T SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known silent c.1395 p.P465 0.016 NULL 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 GSK3A HGNC GSPT2 23708 genome.wustl.edu 37 X 51487545 51487545 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 51487545 51487545 T C SNP GSPT2 ENST00000340438 human ensembl 70_37 +1 known missense c.823 p.Y275H 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC GTPBP4 23560 genome.wustl.edu 37 10 1046733 1046733 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 1046733 1046733 G A SNP GTPBP4 ENST00000360803 human ensembl 70_37 +1 known silent c.771 p.L257 0.997 pfam_NOG1_Rossman_fold_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,tigrfam_Small_GTP-bd_dom pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC GTSF1 121355 genome.wustl.edu 37 12 54856430 54856430 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 54856430 54856430 A C SNP GTSF1 ENST00000546931 human ensembl 70_37 -1 known missense c.324 p.D108E 0.996 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1 HGNC GULP1 51454 genome.wustl.edu 37 2 189458715 189458715 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 189458715 189458715 G A SNP GULP1 ENST00000359135 human ensembl 70_37 +1 known missense c.892 p.D298N 1.000 NULL pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors GULP1 HGNC GVINP1 387751 genome.wustl.edu 37 11 6738700 6738700 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 6738700 6738700 C G SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC H2BFWT 158983 genome.wustl.edu 37 X 103268214 103268214 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 103268214 103268214 G A SNP H2BFWT ENST00000217926 human ensembl 70_37 -1 known missense c.19 p.P7S 0.000 NULL pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC HCFC1 3054 genome.wustl.edu 37 X 153220407 153220407 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153220407 153220407 C A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.3443 p.R1148L 0.016 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC HCFC1 3054 genome.wustl.edu 37 X 153223487 153223487 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153223487 153223487 C T SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.2017 p.G673S 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC HCFC2 29915 genome.wustl.edu 37 12 104476567 104476567 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 104476567 104476567 C T SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known silent c.951 p.G317 0.607 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC HDAC4 9759 genome.wustl.edu 37 2 240002874 240002874 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 240002874 240002874 G A SNP HDAC4 ENST00000345617 human ensembl 70_37 -1 known silent c.2652 p.P884 0.673 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC HDAC6 10013 genome.wustl.edu 37 X 48663867 48663867 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48663867 48663867 C A SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known missense c.376 p.L126I 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC HDLBP 3069 genome.wustl.edu 37 2 242173318 242173318 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 242173318 242173318 C T SNP HDLBP ENST00000310931 human ensembl 70_37 -1 known missense c.3205 p.G1069R 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC HELZ2 85441 genome.wustl.edu 37 20 62192044 62192044 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62192044 62192044 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.7288 p.G2430S 0.649 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HELZ2 85441 genome.wustl.edu 37 20 62195033 62195033 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62195033 62195033 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.5142 p.H1714 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HEPHL1 341208 genome.wustl.edu 37 11 93796772 93796772 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 93796772 93796772 T A SNP HEPHL1 ENST00000315765 human ensembl 70_37 +1 known missense c.514 p.Y172N 0.998 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC HERC5 51191 genome.wustl.edu 37 4 89408255 89408255 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 89408255 89408255 C G SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known missense c.1887 p.F629L 0.997 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC HFM1 164045 genome.wustl.edu 37 1 91781501 91781501 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 91781501 91781501 T G SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3011 p.E1004A 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HIAT1 64645 genome.wustl.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 100534122 100534122 T - DEL HIAT1 ENST00000370152 human ensembl 70_37 +1 known frame_shift_del c.799 p.L269fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC HID1 283987 genome.wustl.edu 37 17 72952038 72952038 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 72952038 72952038 G A SNP HID1 ENST00000425042 human ensembl 70_37 -1 known silent c.1485 p.L495 1.000 pfam_Dymeclin pfam_Dymeclin - no_errors HID1 HGNC HIF1A 3091 genome.wustl.edu 37 14 62207863 62207863 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 62207863 62207863 C G SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.2122 p.H708D 1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC HIP1R 9026 genome.wustl.edu 37 12 123335842 123335842 + Nonsense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 123335842 123335842 C G SNP HIP1R ENST00000253083 human ensembl 70_37 +1 known nonsense c.575 p.S192* 1.000 pfam_ANTH pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1R HGNC HIST1H2AE 3012 genome.wustl.edu 37 6 26217440 26217440 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 26217440 26217440 A G SNP HIST1H2AE ENST00000303910 human ensembl 70_37 +1 known missense c.238 p.I80V 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC HIST1H2AK 8330 genome.wustl.edu 37 6 27805844 27805844 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 27805844 27805844 C A SNP HIST1H2AK ENST00000330180 human ensembl 70_37 -1 known nonsense c.274 p.E92* 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC HIST3H2BB 128312 genome.wustl.edu 37 1 228646059 228646059 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 228646059 228646059 G A SNP HIST3H2BB ENST00000369160 human ensembl 70_37 +1 known missense c.229 p.E77K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST3H2BB HGNC HLA-DQB2 3120 genome.wustl.edu 37 6 32729509 32729509 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32729509 32729509 C G SNP HLA-DQB2 ENST00000435145 human ensembl 70_37 -1 known missense c.292 p.E98Q 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB2 HGNC HMCN1 83872 genome.wustl.edu 37 1 186062323 186062324 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 186062323 186062324 - A INS HMCN1 ENST00000271588 human ensembl 70_37 +1 known frame_shift_ins c.9945_9946 p.Y3316fs 0.992:1.000 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 HMGXB4 10042 genome.wustl.edu 37 22 35660965 35660965 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 35660965 35660965 T G SNP HMGXB4 ENST00000216106 human ensembl 70_37 +1 known missense c.584 p.I195S 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC HNRNPM 4670 genome.wustl.edu 37 19 8553925 8553925 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 8553925 8553925 G A SNP HNRNPM ENST00000602219 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors HNRNPM HGNC HOXB2 3212 genome.wustl.edu 37 17 46620387 46620387 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 46620387 46620387 C A SNP HOXB2 ENST00000504772 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HOXB2 HGNC HOXB9 3219 genome.wustl.edu 37 17 46703486 46703486 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 46703486 46703486 G A SNP HOXB9 ENST00000311177 human ensembl 70_37 -1 known missense c.146 p.S49L 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB9 HGNC HRNR 388697 genome.wustl.edu 37 1 152188861 152188861 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 152188861 152188861 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known silent c.5244 p.S1748 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HS6ST2 90161 genome.wustl.edu 37 X 131762895 131762895 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 131762895 131762895 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.1294 p.R432C 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC HSD17B12 51144 genome.wustl.edu 37 11 43775659 43775659 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 43775659 43775659 T G SNP HSD17B12 ENST00000278353 human ensembl 70_37 +1 known missense c.271 p.S91A 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC HSDL2 84263 genome.wustl.edu 37 9 115181148 115181148 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 115181148 115181148 A T SNP HSDL2 ENST00000398805 human ensembl 70_37 +1 known missense c.508 p.I170F 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC HSPA13 6782 genome.wustl.edu 37 21 15746110 15746110 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 15746110 15746110 C T SNP HSPA13 ENST00000285667 human ensembl 70_37 -1 known missense c.1244 p.R415H 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC HSPA1B 3304 genome.wustl.edu 37 6 31795748 31795748 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 31795748 31795748 C G SNP HSPA1B ENST00000375650 human ensembl 70_37 +1 known missense c.21 p.I7M 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC HSPG2 3339 genome.wustl.edu 37 1 22167723 22167723 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 22167723 22167723 C A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.9384 p.K3128N 0.092 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,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 HSPG2 3339 genome.wustl.edu 37 1 22178154 22178154 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 22178154 22178154 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.7043 p.S2348C 0.933 pfam_Ig_I-set,smart_Ig_sub,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 HUWE1 10075 genome.wustl.edu 37 X 53672359 53672359 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 53672359 53672359 A C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.408 p.N136K 0.938 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HYDIN 54768 genome.wustl.edu 37 16 70908781 70908781 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 70908781 70908781 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.10596 p.L3532 0.999 NULL superfamily_PapD-like - no_errors HYDIN HGNC HYDIN 54768 genome.wustl.edu 37 16 71218810 71218810 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 71218810 71218810 C G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.219 p.Q73H 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ICAM3 3385 genome.wustl.edu 37 19 10446397 10446397 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10446397 10446397 C T SNP ICAM3 ENST00000160262 human ensembl 70_37 -1 known missense c.599 p.G200E 0.269 prints_ICAM pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC IDS 3423 genome.wustl.edu 37 X 148568846 148568846 + Splice_Site SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 148568846 148568846 T G SNP IDS ENST00000370441 human ensembl 70_37 -1 known splice_site c.1007-2 e8-2 0.000 - - - no_errors IDS HGNC IDS 3423 genome.wustl.edu 37 X 148585784 148585784 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 148585784 148585784 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.143 p.R48H 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC IFFO1 25900 genome.wustl.edu 37 12 6649649 6649649 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 6649649 6649649 C T SNP IFFO1 ENST00000356896 human ensembl 70_37 -1 known silent c.1692 p.*564 0.999 NULL NULL - no_errors IFFO1 HGNC IFLTD1 160492 genome.wustl.edu 37 12 25679808 25679808 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 25679808 25679808 T G SNP IFLTD1 ENST00000458174 human ensembl 70_37 -1 known missense c.573 p.E191D 0.257 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC IFNAR2 3455 genome.wustl.edu 37 21 34635430 34635430 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 34635430 34635430 G C SNP IFNAR2 ENST00000342136 human ensembl 70_37 +1 known missense c.1173 p.L391F 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC IFNAR2 3455 genome.wustl.edu 37 21 34635553 34635553 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 34635553 34635553 G C SNP IFNAR2 ENST00000342136 human ensembl 70_37 +1 known missense c.1296 p.L432F 0.370 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC IGF2BP1 10642 genome.wustl.edu 37 17 47123299 47123299 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 47123299 47123299 T G SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known silent c.1443 p.G481 0.922 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC IGF2BP2 10644 genome.wustl.edu 37 3 185407163 185407163 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 185407163 185407163 G A SNP IGF2BP2 ENST00000382199 human ensembl 70_37 -1 known silent c.657 p.I219 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC IGF2R 3482 genome.wustl.edu 37 6 160431704 160431705 + RNA INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 160431704 160431705 - T INS IGF2R ENST00000464636 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors IGF2R HGNC IGSF9 57549 genome.wustl.edu 37 1 159897081 159897081 + RNA DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 159897081 159897081 G - DEL IGSF9 ENST00000476102 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors IGSF9 HGNC IL21 59067 genome.wustl.edu 37 4 123534062 123534062 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 123534062 123534062 A C SNP IL21 ENST00000264497 human ensembl 70_37 -1 known missense c.382 p.Y128D 1.000 pfam_Interleukin_15-like pfam_Interleukin_15-like - no_errors IL21 HGNC IL37 27178 genome.wustl.edu 37 2 113670647 113670647 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 113670647 113670647 G A SNP IL37 ENST00000263326 human ensembl 70_37 +1 known missense c.58 p.D20N 0.059 NULL pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA - no_errors IL37 HGNC INPP4A 3631 genome.wustl.edu 37 2 99182207 99182207 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 99182207 99182207 C A SNP INPP4A ENST00000074304 human ensembl 70_37 +1 known missense c.2272 p.L758M 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC INSC 387755 genome.wustl.edu 37 11 15260507 15260507 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 15260507 15260507 C A SNP INSC ENST00000379554 human ensembl 70_37 +1 known missense c.1421 p.S474Y 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC INTS8 55656 genome.wustl.edu 37 8 95869137 95869137 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 95869137 95869137 C A SNP INTS8 ENST00000523731 human ensembl 70_37 +1 known missense c.1885 p.Q629K 1.000 NULL NULL - no_errors INTS8 HGNC IPO4 79711 genome.wustl.edu 37 14 24654676 24654676 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 24654676 24654676 C T SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known missense c.1267 p.E423K 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC IQCA1 79781 genome.wustl.edu 37 2 237300961 237300961 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 237300961 237300961 A G SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.1243 p.F415L 1.000 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC IQCB1 9657 genome.wustl.edu 37 3 121514315 121514315 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121514315 121514315 C G SNP IQCB1 ENST00000310864 human ensembl 70_37 -1 known missense c.975 p.Q325H 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC IRAK1 3654 genome.wustl.edu 37 X 153278869 153278869 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153278869 153278869 C G SNP IRAK1 ENST00000369980 human ensembl 70_37 -1 known missense c.1555 p.E519Q 0.922 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK1 HGNC IRF7 3665 genome.wustl.edu 37 11 613210 613210 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 613210 613210 G A SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known silent c.1272 p.F424 0.586 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC IRGC 56269 genome.wustl.edu 37 19 44222854 44222854 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 44222854 44222854 C T SNP IRGC ENST00000244314 human ensembl 70_37 +1 known silent c.144 p.A48 0.598 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase - no_errors IRGC HGNC IRS2 8660 genome.wustl.edu 37 13 110434810 110434810 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 110434810 110434810 G A SNP IRS2 ENST00000375856 human ensembl 70_37 -1 known silent c.3591 p.G1197 0.014 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC IRS4 8471 genome.wustl.edu 37 X 107978807 107978807 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 107978807 107978807 C G SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known silent c.768 p.L256 0.997 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC IRX6 79190 genome.wustl.edu 37 16 55362828 55362828 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 55362828 55362828 C T SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known missense c.938 p.A313V 0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC ITGB2 3689 genome.wustl.edu 37 21 46330647 46330647 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 46330647 46330647 G A SNP ITGB2 ENST00000302347 human ensembl 70_37 -1 known silent c.51 p.L17 0.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ITPR2 3709 genome.wustl.edu 37 12 26774150 26774150 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 26774150 26774150 A G SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.3368 p.V1123A 0.998 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ITSN2 50618 genome.wustl.edu 37 2 24518561 24518561 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 24518561 24518561 T A SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.1607 p.E536V 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC IVNS1ABP 10625 genome.wustl.edu 37 1 185266928 185266928 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 185266928 185266928 T C SNP IVNS1ABP ENST00000459929 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IVNS1ABP HGNC JAG1 182 genome.wustl.edu 37 20 10653409 10653409 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 10653409 10653409 G C SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known silent c.327 p.L109 0.998 pfam_Notch_ligand_N pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133961495 133961495 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 133961495 133961495 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.1789 p.E597Q 1.000 NULL NULL - no_errors JAKMIP3 HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133981523 133981523 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 133981523 133981523 G A SNP JAKMIP3 ENST00000477275 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors JAKMIP3 HGNC JRK 8629 genome.wustl.edu 37 8 143746288 143746288 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 143746288 143746288 G C SNP JRK ENST00000422119 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors JRK HGNC KANK2 25959 genome.wustl.edu 37 19 11304469 11304469 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11304469 11304469 C T SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known missense c.287 p.R96H 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC KAT2A 2648 genome.wustl.edu 37 17 40269601 40269601 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40269601 40269601 G A SNP KAT2A ENST00000225916 human ensembl 70_37 -1 known missense c.1442 p.S481L 0.998 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC KAT6A 7994 genome.wustl.edu 37 8 41790749 41790749 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 41790749 41790749 C T SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known silent c.4989 p.P1663 0.259 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC KATNB1 10300 genome.wustl.edu 37 16 57778385 57778385 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 57778385 57778385 C T SNP KATNB1 ENST00000379661 human ensembl 70_37 +1 known missense c.251 p.S84L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC KBTBD7 84078 genome.wustl.edu 37 13 41768292 41768292 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 41768292 41768292 G A SNP KBTBD7 ENST00000379483 human ensembl 70_37 -1 known silent c.102 p.F34 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC KCNAB2 8514 genome.wustl.edu 37 1 6101914 6101914 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 6101914 6101914 G C SNP KCNAB2 ENST00000164247 human ensembl 70_37 +1 known missense c.101 p.R34T 1.000 prints_K_chnl_volt-dep_bsu_KCNAB2 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC KCND2 3751 genome.wustl.edu 37 7 119915228 119915228 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 119915228 119915228 G A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known missense c.542 p.S181N 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC KCNJ1 3758 genome.wustl.edu 37 11 128709383 128709383 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 128709383 128709383 G A SNP KCNJ1 ENST00000392664 human ensembl 70_37 -1 known silent c.813 p.V271 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC KCNJ6 3763 genome.wustl.edu 37 21 39086715 39086715 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 39086715 39086715 C T SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known missense c.745 p.E249K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC KCNK1 3775 genome.wustl.edu 37 1 233750203 233750203 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 233750203 233750203 G A SNP KCNK1 ENST00000366621 human ensembl 70_37 +1 known missense c.286 p.A96T 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC KCNK15 60598 genome.wustl.edu 37 20 43378816 43378816 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 43378816 43378816 C T SNP KCNK15 ENST00000372861 human ensembl 70_37 +1 known silent c.330 p.C110 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC KCNK5 8645 genome.wustl.edu 37 6 39159517 39159517 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 39159517 39159517 C T SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known missense c.649 p.A217T 0.986 pfam_Ion_trans_2 pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC KCNT2 343450 genome.wustl.edu 37 1 196309500 196309500 + Nonsense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 196309500 196309500 A C SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known nonsense c.1754 p.L585* 0.998 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC KCNV1 27012 genome.wustl.edu 37 8 110980823 110980823 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 110980823 110980823 G A SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known missense c.997 p.R333C 0.997 pfam_Ion_trans_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC KCP 375616 genome.wustl.edu 37 7 128524104 128524105 + RNA INS - - G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 128524104 128524105 - G INS KCP ENST00000297801 human ensembl 70_37 -1 known rna NULL NULL 0.790:0.082 - - - no_errors KCP HGNC KDM3A 55818 genome.wustl.edu 37 2 86718364 86718364 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 86718364 86718364 C T SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.3851 p.S1284L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC KDM5C 8242 genome.wustl.edu 37 X 53222364 53222364 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 53222364 53222364 C T SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known missense c.4468 p.E1490K 0.990 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC KDM6A 7403 genome.wustl.edu 37 X 44922854 44922854 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 44922854 44922854 T G SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.1736 p.F579C 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KDR 3791 genome.wustl.edu 37 4 55964327 55964327 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 55964327 55964327 A T SNP KDR ENST00000263923 human ensembl 70_37 -1 known missense c.2486 p.F829Y 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC KIAA0100 9703 genome.wustl.edu 37 17 26943196 26943196 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 26943196 26943196 T C SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.6308 p.D2103G 1.000 pfam_FMP27_C pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA0226L 80183 genome.wustl.edu 37 13 46936679 46936679 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 46936679 46936679 G C SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known missense c.980 p.S327C 0.033 NULL NULL - no_errors KIAA0226L HGNC KIAA0754 643314 genome.wustl.edu 37 1 39879469 39879470 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 39879469 39879470 - C INS KIAA0754 ENST00000530275 human ensembl 70_37 +1 known frame_shift_ins c.3124_3125 p.A1044fs 0.000:0.000 NULL NULL - no_errors KIAA0754 HGNC KIAA1244 57221 genome.wustl.edu 37 6 138656032 138656032 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 138656032 138656032 G A SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.6049 p.A2017T 1.000 NULL pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC KIAA1407 57577 genome.wustl.edu 37 3 113761569 113761569 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 113761569 113761569 C G SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.396 p.L132F 0.719 NULL NULL - no_errors KIAA1407 HGNC KIAA1429 25962 genome.wustl.edu 37 8 95508692 95508692 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 95508692 95508692 T A SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.4247 p.D1416V 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC KIAA1551 55196 genome.wustl.edu 37 12 32140196 32140196 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 32140196 32140196 G T SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known nonsense c.5026 p.E1676* 1.000 NULL NULL - no_errors KIAA1551 HGNC KIAA1731 85459 genome.wustl.edu 37 11 93432821 93432821 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 93432821 93432821 G C SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.4743 p.E1581D 0.000 NULL NULL - no_errors KIAA1731 HGNC KIAA1731 85459 genome.wustl.edu 37 11 93433163 93433163 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 93433163 93433163 G A SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known silent c.5085 p.L1695 0.001 NULL NULL - no_errors KIAA1731 HGNC KIAA1804 84451 genome.wustl.edu 37 1 233489616 233489616 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 233489616 233489616 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known silent c.1050 p.L350 0.025 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename KIAA2018 205717 genome.wustl.edu 37 3 113379988 113379988 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 113379988 113379988 C T SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.541 p.A181T 0.987 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8936988 8936988 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 8936988 8936988 C T SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1011 p.T337 0.923 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIF12 113220 genome.wustl.edu 37 9 116854204 116854204 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 116854204 116854204 G A SNP KIF12 ENST00000259410 human ensembl 70_37 -1 known silent c.1878 p.G626 0.821 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC KIF13B 23303 genome.wustl.edu 37 8 28988140 28988140 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 28988140 28988140 G C SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.2985 p.I995M 0.994 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC KIF23 9493 genome.wustl.edu 37 15 69715581 69715581 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 69715581 69715581 A G SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.647 p.Y216C 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC KIF23 9493 genome.wustl.edu 37 15 69715618 69715618 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 69715618 69715618 T G SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.684 p.N228K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC KIF26A 26153 genome.wustl.edu 37 14 104641518 104641518 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 104641518 104641518 C T SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.2393 p.A798V 0.780 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC KIF26B 55083 genome.wustl.edu 37 1 245772752 245772752 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 245772752 245772752 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known silent c.1836 p.S612 0.005 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIF4A 24137 genome.wustl.edu 37 X 69516913 69516913 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 69516913 69516913 G A SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.301 p.A101T 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 95712 95712 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd GL000209.1 95712 95712 T C SNP KIR3DS1 ENST00000391731 human ensembl 70_37 +1 known silent c.1098 p.A366 NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC KLB 152831 genome.wustl.edu 37 4 39435888 39435888 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 39435888 39435888 G T SNP KLB ENST00000257408 human ensembl 70_37 +1 known missense c.884 p.W295L 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC KLB 152831 genome.wustl.edu 37 4 39448914 39448914 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 39448914 39448914 G A SNP KLB ENST00000257408 human ensembl 70_37 +1 known silent c.2568 p.L856 0.961 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC KLC2 64837 genome.wustl.edu 37 11 66032657 66032657 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 66032657 66032657 G A SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known missense c.1285 p.A429T 0.999 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC KLHL1 57626 genome.wustl.edu 37 13 70514243 70514243 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 70514243 70514243 A C SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.943 p.L315V 0.821 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC KLHL12 59349 genome.wustl.edu 37 1 202880319 202880319 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 202880319 202880319 C G SNP KLHL12 ENST00000435533 human ensembl 70_37 -1 known missense c.694 p.E232Q 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC KLHL13 90293 genome.wustl.edu 37 X 117054302 117054302 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 117054302 117054302 A C SNP KLHL13 ENST00000539496 human ensembl 70_37 -1 known missense c.281 p.L94R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC KLHL33 123103 genome.wustl.edu 37 14 20897148 20897148 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20897148 20897148 A C SNP KLHL33 ENST00000344581 human ensembl 70_37 -1 known missense c.1462 p.C488G 0.010 smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC KLK12 43849 genome.wustl.edu 37 19 51535321 51535321 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51535321 51535321 C T SNP KLK12 ENST00000250351 human ensembl 70_37 -1 known missense c.268 p.G90S 0.218 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK12 HGNC KLK4 9622 genome.wustl.edu 37 19 51410259 51410259 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51410259 51410259 G A SNP KLK4 ENST00000324041 human ensembl 70_37 -1 known silent c.696 p.G232 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK4 HGNC KLK8 11202 genome.wustl.edu 37 19 51499381 51499381 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51499381 51499381 A T SNP KLK8 ENST00000391806 human ensembl 70_37 -1 known silent c.852 p.P284 0.982 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK8 HGNC KLRC4 8302 genome.wustl.edu 37 12 10560365 10560365 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 10560365 10560365 C G SNP KLRC4 ENST00000309384 human ensembl 70_37 -1 known missense c.364 p.E122Q 0.017 superfamily_C-type_lectin_fold superfamily_C-type_lectin_fold - no_errors KLRC4 HGNC KREMEN1 83999 genome.wustl.edu 37 22 29490296 29490296 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 29490296 29490296 G T SNP KREMEN1 ENST00000327813 human ensembl 70_37 +1 known missense c.148 p.A50S 0.999 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Kremen,pfscan_Kringle pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC KRT1 3848 genome.wustl.edu 37 12 53069101 53069101 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 53069101 53069101 G A SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.1811 p.S604F 0.059 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC KRT1 3848 genome.wustl.edu 37 12 53071166 53071166 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 53071166 53071166 G T SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known silent c.1062 p.V354 0.224 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC KRT31 3881 genome.wustl.edu 37 17 39553570 39553570 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 39553570 39553570 C T SNP KRT31 ENST00000251645 human ensembl 70_37 -1 known silent c.222 p.V74 0.998 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC KRTAP27-1 643812 genome.wustl.edu 37 21 31709821 31709821 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 31709821 31709821 C T SNP KRTAP27-1 ENST00000382835 human ensembl 70_37 -1 known missense c.166 p.E56K 0.008 pfam_PMG pfam_PMG - no_errors KRTAP27-1 HGNC L1CAM 3897 genome.wustl.edu 37 X 153138085 153138085 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153138085 153138085 G C SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.165 p.I55M 0.988 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC LAMB1 3912 genome.wustl.edu 37 7 107621098 107621098 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 107621098 107621098 C T SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known missense c.835 p.E279K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC LDLRAP1 26119 genome.wustl.edu 37 1 25891673 25891673 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25891673 25891673 G A SNP LDLRAP1 ENST00000374338 human ensembl 70_37 +1 known missense c.757 p.D253N 1.000 NULL pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors LDLRAP1 HGNC LDLRAP1 26119 genome.wustl.edu 37 1 25893756 25893756 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25893756 25893756 C A SNP LDLRAP1 ENST00000470950 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LDLRAP1 HGNC LGI4 163175 genome.wustl.edu 37 19 35625473 35625473 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35625473 35625473 C T SNP LGI4 ENST00000310123 human ensembl 70_37 -1 known missense c.112 p.A38T 0.978 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC LGR5 8549 genome.wustl.edu 37 12 71972642 71972642 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 71972642 71972642 C G SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.1339 p.H447D 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC LGR5 8549 genome.wustl.edu 37 12 71972644 71972644 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 71972644 71972644 C A SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.1341 p.H447Q 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC LHX6 26468 genome.wustl.edu 37 9 124989703 124989703 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 124989703 124989703 G A SNP LHX6 ENST00000394319 human ensembl 70_37 -1 known silent c.141 p.T47 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX6 HGNC LIMK2 3985 genome.wustl.edu 37 22 31668596 31668596 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31668596 31668596 C A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known silent c.1464 p.A488 0.010 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC LIN7A 8825 genome.wustl.edu 37 12 81283066 81283066 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 81283066 81283066 T A SNP LIN7A ENST00000552864 human ensembl 70_37 -1 known missense c.165 p.K55N 1.000 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC LIN9 286826 genome.wustl.edu 37 1 226420843 226420843 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 226420843 226420843 C G SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.1525 p.D509H 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC LINC00176 284739 genome.wustl.edu 37 20 62669271 62669271 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62669271 62669271 C T SNP LINC00176 ENST00000431158 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00176 HGNC LINC00221 338005 genome.wustl.edu 37 14 106950293 106950293 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 106950293 106950293 C T SNP LINC00221 ENST00000334298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00221 HGNC LINC00346 283487 genome.wustl.edu 37 13 111521724 111521724 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 111521724 111521724 C T SNP LINC00346 ENST00000538077 human ensembl 70_37 -1 known silent c.414 p.T138 0.009 NULL NULL - no_errors LINC00346 HGNC LINC00461 645323 genome.wustl.edu 37 5 87963191 87963191 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 87963191 87963191 G A SNP LINC00461 ENST00000500197 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors LINC00461 HGNC LINGO4 339398 genome.wustl.edu 37 1 151774280 151774280 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151774280 151774280 G A SNP LINGO4 ENST00000368820 human ensembl 70_37 -1 known missense c.901 p.R301W 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like - no_errors LINGO4 HGNC LMAN2L 81562 genome.wustl.edu 37 2 97377743 97377743 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 97377743 97377743 G A SNP LMAN2L ENST00000440610 human ensembl 70_37 -1 known nonsense c.325 p.Q109* 1.000 NULL NULL - no_errors LMAN2L HGNC LMBR1L 55716 genome.wustl.edu 37 12 49504305 49504305 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 49504305 49504305 G A SNP LMBR1L ENST00000267102 human ensembl 70_37 -1 known nonsense c.34 p.R12* 1.000 NULL pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC LOC100506060 100506060 genome.wustl.edu 37 16 70254724 70254724 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 70254724 70254724 G A SNP LOC100506060 ENST00000573141 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-296I10.6 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466210 66466210 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 66466210 66466210 C T SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.122 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC101060596 101060596 genome.wustl.edu 37 16 21531445 21531445 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 21531445 21531445 G A SNP LOC101060596 ENST00000437413 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2547E10.2 Clone_based_vega_gene LOC146880 146880 genome.wustl.edu 37 17 62745955 62745955 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 62745955 62745955 G C SNP LOC146880 ENST00000400873 human ensembl 70_37 -1 known rna NULL NULL 0.929 - - - no_errors hsa-mir-6080 miRBase LOC148709 148709 genome.wustl.edu 37 1 202843160 202843160 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 202843160 202843160 C G SNP LOC148709 ENST00000456105 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-480I12.7 Clone_based_vega_gene LOC285556 285556 genome.wustl.edu 37 4 100574216 100574216 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 100574216 100574216 T C SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative missense c.1590 p.I530M 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene LOC285696 285696 genome.wustl.edu 37 5 17217129 17217129 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 17217129 17217129 A G SNP LOC285696 ENST00000399760 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC091878.1 Clone_based_vega_gene LOC401127 401127 genome.wustl.edu 37 4 39482011 39482011 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 39482011 39482011 G A SNP LOC401127 ENST00000506076 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-472B18.1 Clone_based_vega_gene LOC407835 407835 genome.wustl.edu 37 7 128767621 128767621 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 128767621 128767621 C G SNP LOC407835 ENST00000471777 human ensembl 70_37 +1 known rna NULL NULL 0.863 - - - no_errors RP11-286H14.4 Clone_based_vega_gene LOC646278 646278 genome.wustl.edu 37 15 29035045 29035045 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 29035045 29035045 G A SNP LOC646278 ENST00000562423 human ensembl 70_37 +1 putative rna NULL NULL 0.857 - - - no_errors RP11-578F21.12 Clone_based_vega_gene LOC729218 729218 genome.wustl.edu 37 4 119554774 119554774 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 119554774 119554774 C A SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.371 - - - no_errors RP11-384K6.6 Clone_based_vega_gene LONRF1 91694 genome.wustl.edu 37 8 12586472 12586472 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 12586472 12586472 A T SNP LONRF1 ENST00000398246 human ensembl 70_37 -1 known missense c.1948 p.L650I 0.573 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC LPAR2 9170 genome.wustl.edu 37 19 19737448 19737448 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19737448 19737448 G A SNP LPAR2 ENST00000407877 human ensembl 70_37 -1 known missense c.646 p.R216W 0.022 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt,prints_S1P_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt - no_errors LPAR2 HGNC LPAR3 23566 genome.wustl.edu 37 1 85331733 85331733 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 85331733 85331733 T A SNP LPAR3 ENST00000370611 human ensembl 70_37 -1 known missense c.71 p.D24V 0.996 prints_LPA_rcpt_EDG7,prints_LPA_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC LPAR5 57121 genome.wustl.edu 37 12 6730127 6730127 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 6730127 6730127 C T SNP LPAR5 ENST00000329858 human ensembl 70_37 -1 known silent c.288 p.T96 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors LPAR5 HGNC LPCAT1 79888 genome.wustl.edu 37 5 1483582 1483582 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 1483582 1483582 C T SNP LPCAT1 ENST00000283415 human ensembl 70_37 -1 known silent c.687 p.A229 0.232 smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors LPCAT1 HGNC LPCAT2 54947 genome.wustl.edu 37 16 55543252 55543252 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 55543252 55543252 G A SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known silent c.159 p.A53 0.000 NULL pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC LRCH2 57631 genome.wustl.edu 37 X 114414315 114414315 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 114414315 114414315 C T SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known splice_site c.622-1 e4-1 1.000 - - - no_errors LRCH2 HGNC LRGUK 136332 genome.wustl.edu 37 7 133848242 133848242 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 133848242 133848242 G T SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known missense c.889 p.G297C 1.000 pfam_Leu-rich_rpt pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC LRGUK 136332 genome.wustl.edu 37 7 133881815 133881815 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 133881815 133881815 C T SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known silent c.1503 p.I501 0.992 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC LRPPRC 10128 genome.wustl.edu 37 2 44190814 44190814 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 44190814 44190814 T A SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1401 p.E467D 0.005 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC NRROS 375387 genome.wustl.edu 37 3 196386861 196386861 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 196386861 196386861 G A SNP LRRC33 ENST00000328557 human ensembl 70_37 +1 known missense c.347 p.C116Y 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC33 HGNC LRRC53 100144878 genome.wustl.edu 37 1 74945903 74945903 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 74945903 74945903 G A SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known silent c.838 p.L280 0.176 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC LRRC70 100130733 genome.wustl.edu 37 5 61876409 61876409 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 61876409 61876409 A T SNP LRRC70 ENST00000334994 human ensembl 70_37 +1 known missense c.1144 p.N382Y 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC70 HGNC LRRC71 149499 genome.wustl.edu 37 1 156901741 156901741 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156901741 156901741 C T SNP LRRC71 ENST00000337428 human ensembl 70_37 +1 known missense c.1363 p.L455F 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC LYST 1130 genome.wustl.edu 37 1 235824371 235824371 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 235824371 235824371 G C SNP LYST ENST00000473037 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors LYST HGNC MAB21L1 4081 genome.wustl.edu 37 13 36049347 36049347 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36049347 36049347 C T SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known missense c.929 p.C310Y 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC MACF1 23499 genome.wustl.edu 37 1 39753018 39753018 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 39753018 39753018 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known silent c.1584 p.R528 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MACF1 23499 genome.wustl.edu 37 1 39950488 39950488 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 39950488 39950488 C T SNP MACF1 ENST00000496360 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MACF1 HGNC MAGEB6 158809 genome.wustl.edu 37 X 26212649 26212649 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 26212649 26212649 A G SNP MAGEB6 ENST00000379034 human ensembl 70_37 +1 known missense c.686 p.Y229C 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140995697 140995697 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 140995697 140995697 C T SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.2507 p.S836F 0.708 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAGEC3 139081 genome.wustl.edu 37 X 140969244 140969244 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 140969244 140969244 T C SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known silent c.571 p.L191 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAMLD1 10046 genome.wustl.edu 37 X 149680843 149680843 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 149680843 149680843 C A SNP MAMLD1 ENST00000432680 human ensembl 70_37 +1 known missense c.2497 p.Q833K 0.000 NULL NULL - no_errors MAMLD1 HGNC MAN1B1 11253 genome.wustl.edu 37 9 139994210 139994210 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 139994210 139994210 C T SNP MAN1B1 ENST00000371589 human ensembl 70_37 +1 known missense c.793 p.R265C 0.996 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC MAP1S 55201 genome.wustl.edu 37 19 17838081 17838081 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 17838081 17838081 G A SNP MAP1S ENST00000324096 human ensembl 70_37 +1 known missense c.1888 p.A630T 0.000 NULL NULL - no_errors MAP1S HGNC MAP3K1 4214 genome.wustl.edu 37 5 56184171 56184171 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 56184171 56184171 C T SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.4376 p.A1459V 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC MAP3K10 4294 genome.wustl.edu 37 19 40710431 40710431 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 40710431 40710431 C T SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known silent c.903 p.V301 0.998 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC MAP3K5 4217 genome.wustl.edu 37 6 136888803 136888803 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 136888803 136888803 C T SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.3727 p.V1243I 0.665 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC MAP3K6 9064 genome.wustl.edu 37 1 27683127 27683127 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 27683127 27683127 C T SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.3478 p.A1160T 0.073 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC MAP3K6 9064 genome.wustl.edu 37 1 27690446 27690446 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 27690446 27690446 T A SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.826 p.I276F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC MAPK8IP3 23162 genome.wustl.edu 37 16 1818599 1818599 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 1818599 1818599 C T SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.3861 p.G1287 0.639 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC MARVELD3 91862 genome.wustl.edu 37 16 71674336 71674336 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 71674336 71674336 C T SNP MARVELD3 ENST00000299952 human ensembl 70_37 +1 known silent c.639 p.L213 1.000 NULL NULL - no_errors MARVELD3 HGNC MBOAT7 79143 genome.wustl.edu 37 19 54691188 54691188 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54691188 54691188 C T SNP MBOAT7 ENST00000495968 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MBOAT7 HGNC MDGA1 266727 genome.wustl.edu 37 6 37619916 37619916 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 37619916 37619916 C T SNP MDGA1 ENST00000297153 human ensembl 70_37 -1 known missense c.1183 p.A395T 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC MED12L 116931 genome.wustl.edu 37 3 151130966 151130966 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 151130966 151130966 C T SNP MED12L ENST00000474524 human ensembl 70_37 +1 known silent c.6075 p.G2025 0.160 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC MED15 51586 genome.wustl.edu 37 22 20920813 20920814 + In_Frame_Ins INS - - CAG TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 20920813 20920814 - CAG INS MED15 ENST00000263205 human ensembl 70_37 +1 known in_frame_ins c.750_751 p.254in_frame_insQ 0.993:0.998 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC MEF2BNB-MEF2B 4207 genome.wustl.edu 37 19 19293486 19293486 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19293486 19293486 C T SNP MEF2BNB-MEF2B ENST00000354191 human ensembl 70_37 -1 known silent c.222 p.V74 0.999 pfam_UPF0402_NEP pfam_UPF0402_NEP - no_errors MEF2BNB-MEF2B HGNC MEF2D 4209 genome.wustl.edu 37 1 156436093 156436093 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156436093 156436093 A - DEL MEF2D ENST00000464356 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors MEF2D HGNC MEF2D 4209 genome.wustl.edu 37 1 156450503 156450503 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156450503 156450503 G - DEL MEF2D ENST00000340875 human ensembl 70_37 -1 known frame_shift_del c.325 p.Q109fs 1.000 pfam_HJURP_C pfam_HJURP_C,pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC METAP1D 254042 genome.wustl.edu 37 2 172945101 172945101 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 172945101 172945101 G A SNP METAP1D ENST00000315796 human ensembl 70_37 +1 known silent c.975 p.A325 0.339 superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC METTL17 64745 genome.wustl.edu 37 14 21464426 21464426 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21464426 21464426 C T SNP METTL17 ENST00000382985 human ensembl 70_37 +1 known missense c.1055 p.A352V 0.281 pfam_Ribosomal_Rsm22_bac-type pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC METTL24 728464 genome.wustl.edu 37 6 110636575 110636575 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 110636575 110636575 C T SNP METTL24 ENST00000338882 human ensembl 70_37 -1 known missense c.527 p.R176H 0.344 NULL NULL - no_errors METTL24 HGNC MGAM 8972 genome.wustl.edu 37 7 141805659 141805659 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 141805659 141805659 T G SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.5542 p.F1848V 0.083 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MGAT3 4248 genome.wustl.edu 37 22 39883698 39883698 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 39883698 39883698 G A SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known missense c.346 p.V116I 0.996 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC MGRN1 23295 genome.wustl.edu 37 16 4738820 4738820 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 4738820 4738820 G A SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known missense c.1642 p.A548T 0.454 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC MIA3 375056 genome.wustl.edu 37 1 222802912 222802912 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 222802912 222802912 A T SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2350 p.M784L 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC MINK1 50488 genome.wustl.edu 37 17 4794897 4794897 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 4794897 4794897 G A SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known silent c.1887 p.T629 0.358 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC MIR1252 100302136 genome.wustl.edu 37 12 79813096 79813096 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 79813096 79813096 T G SNP MIR1252 ENST00000408861 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors MIR1252 HGNC MIR520F 574464 genome.wustl.edu 37 19 54185499 54185499 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54185499 54185499 A G SNP MIR520F ENST00000384824 human ensembl 70_37 +1 known rna NULL NULL 0.228 - - - no_errors MIR520F HGNC MIR548F4 100313895 genome.wustl.edu 37 7 147075210 147075210 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 147075210 147075210 A C SNP MIR548F4 ENST00000408515 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR548F4 HGNC MIR642A 693227 genome.wustl.edu 37 19 46178253 46178253 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46178253 46178253 G A SNP MIR642A ENST00000385039 human ensembl 70_37 +1 known rna NULL NULL 0.251 - - - no_errors MIR642A HGNC MIR7-3 407045 genome.wustl.edu 37 19 4770688 4770688 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4770688 4770688 G C SNP MIR7-3 ENST00000384898 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors MIR7-3 HGNC MLH1 4292 genome.wustl.edu 37 3 37055922 37055922 + Splice_Site SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 37055922 37055922 G A SNP MLH1 ENST00000231790 human ensembl 70_37 +1 known splice_site c.678-1 e9-1 1.000 - - - no_errors MLH1 HGNC KMT2A 4297 genome.wustl.edu 37 11 118375513 118375513 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 118375513 118375513 C G SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.8897 p.S2966C 0.996 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 MLL HGNC KMT2C 58508 genome.wustl.edu 37 7 152009013 152009013 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 152009013 152009013 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known silent c.609 p.Q203 0.981 NULL 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MME 4311 genome.wustl.edu 37 3 154859901 154859901 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 154859901 154859901 C A SNP MME ENST00000360490 human ensembl 70_37 +1 known missense c.1079 p.T360N 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC MMGT1 93380 genome.wustl.edu 37 X 135056076 135056076 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 135056076 135056076 C T SNP MMGT1 ENST00000433339 human ensembl 70_37 -1 known missense c.31 p.E11K 0.000 NULL pfam_Magnesium_transport - no_errors MMGT1 HGNC MMP11 4320 genome.wustl.edu 37 22 24124460 24124460 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 24124460 24124460 G A SNP MMP11 ENST00000215743 human ensembl 70_37 +1 known missense c.1123 p.A375T 0.028 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP11 HGNC MOCS1 4337 genome.wustl.edu 37 6 39893501 39893501 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 39893501 39893501 G A SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known silent c.339 p.L113 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC MORC1 27136 genome.wustl.edu 37 3 108698464 108698464 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 108698464 108698464 G T SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known missense c.2375 p.A792D 0.000 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC MORC1 27136 genome.wustl.edu 37 3 108751642 108751642 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 108751642 108751642 G A SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known missense c.1490 p.S497F 0.864 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC MPDZ 8777 genome.wustl.edu 37 9 13205089 13205089 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 13205089 13205089 C T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.1492 p.E498K 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MPEG1 219972 genome.wustl.edu 37 11 58979797 58979797 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 58979797 58979797 C T SNP MPEG1 ENST00000361050 human ensembl 70_37 -1 known missense c.542 p.R181H 0.068 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC MPHOSPH10 10199 genome.wustl.edu 37 2 71375143 71375143 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 71375143 71375143 T G SNP MPHOSPH10 ENST00000244230 human ensembl 70_37 +1 known missense c.1572 p.I524M 0.993 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC MS4A1 931 genome.wustl.edu 37 11 60235878 60235878 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 60235878 60235878 G A SNP MS4A1 ENST00000345732 human ensembl 70_37 +1 known silent c.831 p.T277 0.109 NULL pfam_CD20-like - no_errors MS4A1 HGNC MST1 4485 genome.wustl.edu 37 3 49723358 49723358 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49723358 49723358 C T SNP MST1 ENST00000449682 human ensembl 70_37 -1 known silent c.1185 p.T395 0.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC MST1L 11223 genome.wustl.edu 37 1 17085992 17085992 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 17085992 17085992 C G SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.905 p.G302A 0.960 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC MT-ATP6 4508 genome.wustl.edu 37 MT 8967 8967 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd MT 8967 8967 C A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.441 p.I147M NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6045 6045 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd MT 6045 6045 C T SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known silent c.142 p.L48 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MTA1 9112 genome.wustl.edu 37 14 105930894 105930894 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 105930894 105930894 G A SNP MTA1 ENST00000331320 human ensembl 70_37 +1 known missense c.1334 p.R445H 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC MTL5 9633 genome.wustl.edu 37 11 68517982 68517982 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 68517982 68517982 G A SNP MTL5 ENST00000255087 human ensembl 70_37 -1 known silent c.147 p.F49 0.000 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC MTUS2-AS1 100874107 genome.wustl.edu 37 13 30061712 30061712 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 30061712 30061712 G C SNP MTUS2-AS1 ENST00000323380 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTUS2-AS1 HGNC MUC17 140453 genome.wustl.edu 37 7 100674975 100674975 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 100674975 100674975 C T SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.278 p.S93L 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC5B 727897 genome.wustl.edu 37 11 1263798 1263798 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 1263798 1263798 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.5697 p.T1899 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUSK 4593 genome.wustl.edu 37 9 113550016 113550016 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 113550016 113550016 A C SNP MUSK ENST00000189978 human ensembl 70_37 +1 known missense c.1843 p.K615Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC MVD 4597 genome.wustl.edu 37 16 88725118 88725118 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88725118 88725118 G A SNP MVD ENST00000567064 human ensembl 70_37 -1 known nonsense c.151 p.R51* 0.297 NULL NULL - no_errors MVD HGNC MYBPC2 4606 genome.wustl.edu 37 19 50958852 50958852 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 50958852 50958852 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.2289 p.I763 0.906 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC MYBPHL 343263 genome.wustl.edu 37 1 109837879 109837879 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109837879 109837879 C T SNP MYBPHL ENST00000357155 human ensembl 70_37 -1 known missense c.908 p.G303D 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPHL HGNC MYH15 22989 genome.wustl.edu 37 3 108172921 108172921 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 108172921 108172921 G C SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.2391 p.F797L 0.998 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH2 4620 genome.wustl.edu 37 17 10432905 10432905 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 10432905 10432905 G C SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.3093 p.I1031M 1.000 superfamily_Prefoldin 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 MYH9 4627 genome.wustl.edu 37 22 36708234 36708234 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 36708234 36708234 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1588 p.E530K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYL7 58498 genome.wustl.edu 37 7 44178493 44178494 + RNA INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44178493 44178494 - C INS MYL7 ENST00000434895 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MYL7 HGNC MYLPF 29895 genome.wustl.edu 37 16 30387760 30387760 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 30387760 30387760 G C SNP MYLPF ENST00000322861 human ensembl 70_37 +1 known missense c.189 p.K63N 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYLPF HGNC MYO15A 51168 genome.wustl.edu 37 17 18045527 18045527 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 18045527 18045527 G C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.5784 p.K1928N 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYO19 80179 genome.wustl.edu 37 17 34870339 34870339 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 34870339 34870339 G C SNP MYO19 ENST00000431794 human ensembl 70_37 -1 known missense c.670 p.R224G 0.887 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC MYO1D 4642 genome.wustl.edu 37 17 31048090 31048090 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 31048090 31048090 G A SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known missense c.1864 p.R622C 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC MYT1 4661 genome.wustl.edu 37 20 62839109 62839109 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62839109 62839109 C T SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.560 p.A187V 0.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC MYT1L 23040 genome.wustl.edu 37 2 1926366 1926366 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 1926366 1926366 C T SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1175 p.R392Q 0.894 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC NADK 65220 genome.wustl.edu 37 1 1693443 1693443 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1693443 1693443 C T SNP NADK ENST00000344463 human ensembl 70_37 -1 known missense c.211 p.V71M 1.000 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC NAV3 89795 genome.wustl.edu 37 12 78569092 78569092 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 78569092 78569092 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.4988 p.R1663H 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 NBAS 51594 genome.wustl.edu 37 2 15534390 15534390 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 15534390 15534390 C T SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.3218 p.R1073H 0.619 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC NBEA 26960 genome.wustl.edu 37 13 36129178 36129178 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36129178 36129178 G T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.6861 p.Q2287H 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBEA 26960 genome.wustl.edu 37 13 36229092 36229092 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36229092 36229092 T C SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.8073 p.Y2691 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBPF3 84224 genome.wustl.edu 37 1 21809763 21809763 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 21809763 21809763 T C SNP NBPF3 ENST00000318249 human ensembl 70_37 +1 known missense c.1786 p.Y596H 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC NCAM1 4684 genome.wustl.edu 37 11 113102431 113102431 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 113102431 113102431 T C SNP NCAM1 ENST00000316851 human ensembl 70_37 +1 known missense c.1124 p.I375T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC NCBP1 4686 genome.wustl.edu 37 9 100407993 100407993 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100407993 100407993 C T SNP NCBP1 ENST00000375147 human ensembl 70_37 +1 known missense c.590 p.A197V 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC NCBP1 4686 genome.wustl.edu 37 9 100423313 100423313 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100423313 100423313 G A SNP NCBP1 ENST00000375147 human ensembl 70_37 +1 known silent c.1563 p.L521 1.000 pfam_MIF4G-like_typ-2,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC NCOR1 9611 genome.wustl.edu 37 17 15976879 15976879 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 15976879 15976879 A C SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.3675 p.I1225M 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC NCOR2 9612 genome.wustl.edu 37 12 124832779 124832779 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 124832779 124832779 C T SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.3947 p.R1316H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NDUFS2 4720 genome.wustl.edu 37 1 161183875 161183875 + RNA DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 161183875 161183875 T - DEL NDUFS2 ENST00000465923 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors NDUFS2 HGNC NEBL 10529 genome.wustl.edu 37 10 21115385 21115385 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 21115385 21115385 A G SNP NEBL ENST00000377122 human ensembl 70_37 -1 known silent c.1860 p.N620 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC NECAB1 64168 genome.wustl.edu 37 8 91962037 91962037 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 91962037 91962037 T G SNP NECAB1 ENST00000417640 human ensembl 70_37 +1 known missense c.863 p.I288S 1.000 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC NEDD9 4739 genome.wustl.edu 37 6 11213753 11213753 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 11213753 11213753 G A SNP NEDD9 ENST00000379446 human ensembl 70_37 -1 known missense c.220 p.H74Y 0.882 superfamily_SH3_domain pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC NEIL1 79661 genome.wustl.edu 37 15 75644551 75644551 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 75644551 75644551 G A SNP NEIL1 ENST00000355059 human ensembl 70_37 +1 known silent c.534 p.L178 0.734 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC NEUROD1 4760 genome.wustl.edu 37 2 182542884 182542884 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 182542884 182542884 T C SNP NEUROD1 ENST00000295108 human ensembl 70_37 -1 known missense c.704 p.D235G 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD1 HGNC NFATC1 4772 genome.wustl.edu 37 18 77170429 77170429 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 77170429 77170429 G A SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.154 p.V52I 0.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC NFKB1 4790 genome.wustl.edu 37 4 103534740 103534741 + Splice_Site INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 103534740 103534741 - A INS NFKB1 ENST00000226574 human ensembl 70_37 +1 known splice_site_ins c.2749+2_2749+1 e22+2 0.998:0.217 - - - no_errors NFKB1 HGNC NFX1 4799 genome.wustl.edu 37 9 33351829 33351829 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 33351829 33351829 C T SNP NFX1 ENST00000466971 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NFX1 HGNC NGFR 4804 genome.wustl.edu 37 17 47590069 47590069 + Splice_Site SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 47590069 47590069 G T SNP NGFR ENST00000172229 human ensembl 70_37 +1 known splice_site c.983-1 e6-1 1.000 - - - no_errors NGFR HGNC NHSL2 340527 genome.wustl.edu 37 X 71360613 71360613 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 71360613 71360613 G A SNP NHSL2 ENST00000540800 human ensembl 70_37 +1 known missense c.3215 p.S1072N 0.000 NULL NULL - no_errors NHSL2 HGNC NLGN3 54413 genome.wustl.edu 37 X 70387591 70387591 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70387591 70387591 G A SNP NLGN3 ENST00000358741 human ensembl 70_37 +1 known silent c.1644 p.K548 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC NLGN3 54413 genome.wustl.edu 37 X 70390052 70390052 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70390052 70390052 T C SNP NLGN3 ENST00000476589 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NLGN3 HGNC NLRP11 204801 genome.wustl.edu 37 19 56297128 56297128 + Nonsense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56297128 56297128 T A SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known nonsense c.2965 p.R989* 0.453 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC NLRX1 79671 genome.wustl.edu 37 11 119042084 119042084 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 119042084 119042084 C T SNP NLRX1 ENST00000468765 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NLRX1 HGNC NMD3 51068 genome.wustl.edu 37 3 160968681 160968681 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 160968681 160968681 G A SNP NMD3 ENST00000351193 human ensembl 70_37 +1 known missense c.1495 p.A499T 1.000 NULL pfam_NMD3 - no_errors NMD3 HGNC NME5 8382 genome.wustl.edu 37 5 137464199 137464199 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 137464199 137464199 C T SNP NME5 ENST00000265191 human ensembl 70_37 -1 known silent c.405 p.A135 0.957 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC NMS 129521 genome.wustl.edu 37 2 101097609 101097609 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 101097609 101097609 C T SNP NMS ENST00000376865 human ensembl 70_37 +1 known nonsense c.394 p.R132* 0.042 pfam_NMU_C pfam_NMU_C - no_errors NMS HGNC NNT 23530 genome.wustl.edu 37 5 43644761 43644761 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 43644761 43644761 C T SNP NNT ENST00000264663 human ensembl 70_37 +1 known nonsense c.1147 p.Q383* 1.000 tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC NOL4 8715 genome.wustl.edu 37 18 31599440 31599440 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 31599440 31599440 C T SNP NOL4 ENST00000261592 human ensembl 70_37 -1 known missense c.898 p.D300N 1.000 NULL NULL - no_errors NOL4 HGNC NOL9 79707 genome.wustl.edu 37 1 6586036 6586036 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 6586036 6586036 C T SNP NOL9 ENST00000377705 human ensembl 70_37 -1 known missense c.1987 p.V663I 0.455 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors NOL9 HGNC NOP9 161424 genome.wustl.edu 37 14 24774255 24774255 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 24774255 24774255 C T SNP NOP9 ENST00000267425 human ensembl 70_37 +1 known missense c.1865 p.A622V 0.901 NULL superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120539657 120539657 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 120539657 120539657 C G SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.714 p.Q238H 1.000 pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NOTCH4 4855 genome.wustl.edu 37 6 32169256 32169256 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32169256 32169256 G A SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known silent c.3777 p.C1259 1.000 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC NPEPPS 9520 genome.wustl.edu 37 17 45679078 45679078 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 45679078 45679078 G T SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.1705 p.V569F 0.994 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC NPR1 4881 genome.wustl.edu 37 1 153661549 153661549 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 153661549 153661549 G T SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known missense c.2538 p.E846D 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC NPR1 4881 genome.wustl.edu 37 1 153665869 153665869 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 153665869 153665869 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.3165 p.R1055 0.975 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC NR1H3 10062 genome.wustl.edu 37 11 47281001 47281001 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 47281001 47281001 G A SNP NR1H3 ENST00000419652 human ensembl 70_37 +1 known missense c.133 p.A45T 0.000 NULL NULL - no_errors NR1H3 HGNC NRD1 4898 genome.wustl.edu 37 1 52305911 52305912 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 52305911 52305912 - T INS NRD1 ENST00000354831 human ensembl 70_37 -1 known frame_shift_ins c.617_616 p.T206fs 1.000:1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC NRIP1 8204 genome.wustl.edu 37 21 16337835 16337835 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 16337835 16337835 G T SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known silent c.2679 p.S893 0.019 NULL NULL - no_errors NRIP1 HGNC NRIP1 8204 genome.wustl.edu 37 21 16339364 16339364 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 16339364 16339364 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.1150 p.L384F 1.000 NULL NULL - no_errors NRIP1 HGNC NRXN1 9378 genome.wustl.edu 37 2 50148602 50148602 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 50148602 50148602 A C SNP NRXN1 ENST00000484192 human ensembl 70_37 -1 known rna NULL NULL 0.090 - - - no_errors NRXN1 HGNC NSD1 64324 genome.wustl.edu 37 5 176687130 176687130 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 176687130 176687130 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.5107 p.E1703Q 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NUDT12 83594 genome.wustl.edu 37 5 102895902 102895902 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 102895902 102895902 A C SNP NUDT12 ENST00000230792 human ensembl 70_37 -1 known missense c.48 p.F16L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 NUDT17 200035 genome.wustl.edu 37 1 145588598 145588598 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 145588598 145588598 C T SNP NUDT17 ENST00000460879 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NUDT17 HGNC NUP133 55746 genome.wustl.edu 37 1 229613359 229613359 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 229613359 229613359 C T SNP NUP133 ENST00000261396 human ensembl 70_37 -1 known missense c.1741 p.E581K 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC NUP153 9972 genome.wustl.edu 37 6 17665574 17665574 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 17665574 17665574 T C SNP NUP153 ENST00000537253 human ensembl 70_37 -1 known missense c.1111 p.K371E 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC NXF2B 728343 genome.wustl.edu 37 X 101620151 101620151 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 101620151 101620151 G A SNP NXF2B ENST00000372749 human ensembl 70_37 -1 known missense c.1295 p.S432L 0.023 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC NXT1 29107 genome.wustl.edu 37 20 23334805 23334805 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 23334805 23334805 G A SNP NXT1 ENST00000254998 human ensembl 70_37 +1 known missense c.127 p.A43T 0.998 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT1 HGNC OAT 4942 genome.wustl.edu 37 10 126092460 126092460 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 126092460 126092460 C T SNP OAT ENST00000368845 human ensembl 70_37 -1 known silent c.678 p.A226 0.425 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans - no_errors OAT HGNC OCIAD1 54940 genome.wustl.edu 37 4 48854008 48854008 + Nonstop_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 48854008 48854008 G C SNP OCIAD1 ENST00000396448 human ensembl 70_37 +1 known nonstop c.563 p.*188S 1.000 NULL pfam_OCIA - no_errors OCIAD1 HGNC ODC1 4953 genome.wustl.edu 37 2 10581818 10581818 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 10581818 10581818 G A SNP ODC1 ENST00000234111 human ensembl 70_37 -1 known missense c.1058 p.S353F 0.982 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC OGDH 4967 genome.wustl.edu 37 7 44746853 44746853 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44746853 44746853 G A SNP OGDH ENST00000222673 human ensembl 70_37 +1 known missense c.2662 p.D888N 0.002 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC OR10G7 390265 genome.wustl.edu 37 11 123909484 123909484 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 123909484 123909484 C T SNP OR10G7 ENST00000330487 human ensembl 70_37 -1 known silent c.225 p.T75 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC OR10G9 219870 genome.wustl.edu 37 11 123893793 123893793 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 123893793 123893793 T A SNP OR10G9 ENST00000375024 human ensembl 70_37 +1 known missense c.74 p.L25H 0.836 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC OR10H5 284433 genome.wustl.edu 37 19 15905729 15905729 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15905729 15905729 T G SNP OR10H5 ENST00000308940 human ensembl 70_37 +1 known missense c.871 p.F291V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC OR10S1 219873 genome.wustl.edu 37 11 123847899 123847899 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 123847899 123847899 G A SNP OR10S1 ENST00000531945 human ensembl 70_37 -1 known missense c.500 p.A167V 0.114 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC OR13J1 392309 genome.wustl.edu 37 9 35870178 35870178 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 35870178 35870178 G A SNP OR13J1 ENST00000377981 human ensembl 70_37 -1 known missense c.221 p.T74M 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13J1 HGNC OR1Q1 158131 genome.wustl.edu 37 9 125377830 125377830 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 125377830 125377830 C T SNP OR1Q1 ENST00000297913 human ensembl 70_37 +1 known missense c.814 p.R272C 0.078 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC OR2K2 26248 genome.wustl.edu 37 9 114089963 114089963 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 114089963 114089963 A T SNP OR2K2 ENST00000374428 human ensembl 70_37 -1 known missense c.838 p.Y280N 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC OR2M5 127059 genome.wustl.edu 37 1 248308766 248308766 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 248308766 248308766 C T SNP OR2M5 ENST00000366476 human ensembl 70_37 +1 known missense c.317 p.S106L 0.001 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC OR3A1 4994 genome.wustl.edu 37 17 3195220 3195220 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 3195220 3195220 G A SNP OR3A1 ENST00000323404 human ensembl 70_37 -1 known silent c.657 p.I219 0.072 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC OR4X1 390113 genome.wustl.edu 37 11 48285667 48285667 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 48285667 48285667 C G SNP OR4X1 ENST00000320048 human ensembl 70_37 +1 known missense c.255 p.I85M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC OR51V1 283111 genome.wustl.edu 37 11 5221010 5221010 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 5221010 5221010 C T SNP OR51V1 ENST00000321255 human ensembl 70_37 -1 known silent c.921 p.Q307 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC OR52A4 390053 genome.wustl.edu 37 11 5142642 5142642 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 5142642 5142642 T G SNP OR52A4 ENST00000481634 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors OR52A4 HGNC OR52L1 338751 genome.wustl.edu 37 11 6007193 6007193 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 6007193 6007193 C G SNP OR52L1 ENST00000332249 human ensembl 70_37 -1 known missense c.968 p.R323T 0.398 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC OR5T2 219464 genome.wustl.edu 37 11 56000560 56000560 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 56000560 56000560 G A SNP OR5T2 ENST00000313264 human ensembl 70_37 -1 known silent c.102 p.F34 0.160 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC OR8B2 26595 genome.wustl.edu 37 11 124252641 124252641 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 124252641 124252641 A G SNP OR8B2 ENST00000375013 human ensembl 70_37 -1 known missense c.599 p.L200P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC OR8H3 390152 genome.wustl.edu 37 11 55890680 55890680 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 55890680 55890680 T C SNP OR8H3 ENST00000313472 human ensembl 70_37 +1 known missense c.832 p.Y278H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC OR8K5 219453 genome.wustl.edu 37 11 55926966 55926966 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 55926966 55926966 C T SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known silent c.828 p.V276 0.245 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ORM2 5005 genome.wustl.edu 37 9 117092310 117092310 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 117092310 117092310 G A SNP ORM2 ENST00000412657 human ensembl 70_37 +1 known nonsense c.126 p.W42* 0.001 NULL NULL - no_errors ORM2 HGNC OSBP2 23762 genome.wustl.edu 37 22 31266552 31266552 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31266552 31266552 C G SNP OSBP2 ENST00000332585 human ensembl 70_37 +1 known silent c.990 p.L330 0.999 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC OSBP2 23762 genome.wustl.edu 37 22 31266626 31266626 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31266626 31266626 A T SNP OSBP2 ENST00000332585 human ensembl 70_37 +1 known missense c.1064 p.E355V 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC OSCP1 127700 genome.wustl.edu 37 1 36883838 36883838 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 36883838 36883838 C G SNP OSCP1 ENST00000235532 human ensembl 70_37 -1 known missense c.1042 p.E348Q 1.000 NULL pfam_OSCP1 - no_errors OSCP1 HGNC OSR1 130497 genome.wustl.edu 37 2 19553221 19553221 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 19553221 19553221 G A SNP OSR1 ENST00000272223 human ensembl 70_37 -1 known missense c.346 p.R116C 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC OTOG 340990 genome.wustl.edu 37 11 17613067 17613067 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 17613067 17613067 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.2974 p.R992W 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC OTOGL 283310 genome.wustl.edu 37 12 80735734 80735734 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 80735734 80735734 G T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.5030 p.C1677F 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC OTOGL 283310 genome.wustl.edu 37 12 80764367 80764367 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 80764367 80764367 C A SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.6606 p.H2202Q 0.938 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC OTUD5 55593 genome.wustl.edu 37 X 48792055 48792055 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48792055 48792055 C T SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.839 p.G280D 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC PAFAH1B1 5048 genome.wustl.edu 37 17 2585025 2585025 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 2585025 2585025 T G SNP PAFAH1B1 ENST00000397195 human ensembl 70_37 +1 known missense c.1162 p.F388V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PAFAH1B1 HGNC PAGR1 79447 genome.wustl.edu 37 16 29828234 29828234 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 29828234 29828234 G A SNP PAGR1 ENST00000320330 human ensembl 70_37 +1 known missense c.388 p.E130K 0.885 NULL NULL - no_errors PAGR1 HGNC PAH 5053 genome.wustl.edu 37 12 103249048 103249048 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 103249048 103249048 A C SNP PAH ENST00000553106 human ensembl 70_37 -1 known missense c.572 p.F191C 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC PAH 5053 genome.wustl.edu 37 12 103288558 103288559 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 103288558 103288559 - A INS PAH ENST00000553106 human ensembl 70_37 -1 known frame_shift_ins c.307_306 p.G102fs 1.000:0.982 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC PAPL 390928 genome.wustl.edu 37 19 39575960 39575960 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 39575960 39575960 C G SNP PAPL ENST00000331256 human ensembl 70_37 +1 known missense c.51 p.F17L 0.003 superfamily_Purple_acid_Pase-like_N pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_genename PAPLN 89932 genome.wustl.edu 37 14 73733225 73733225 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 73733225 73733225 G A SNP PAPLN ENST00000427855 human ensembl 70_37 +1 known missense c.3280 p.D1094N 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC PARD3B 117583 genome.wustl.edu 37 2 206265749 206265749 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 206265749 206265749 G T SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.2643 p.K881N 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC PARD6A 50855 genome.wustl.edu 37 16 67696338 67696338 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 67696338 67696338 G C SNP PARD6A ENST00000219255 human ensembl 70_37 +1 known missense c.829 p.D277H 0.995 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6A HGNC PARP12 64761 genome.wustl.edu 37 7 139726044 139726044 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 139726044 139726044 T A SNP PARP12 ENST00000263549 human ensembl 70_37 -1 known missense c.1733 p.N578I 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC PARP14 54625 genome.wustl.edu 37 3 122437682 122437682 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 122437682 122437682 G C SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.4684 p.E1562Q 0.000 pfam_WWE-dom,pfscan_WWE-dom pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PARVB 29780 genome.wustl.edu 37 22 44514992 44514992 + Nonsense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 44514992 44514992 T A SNP PARVB ENST00000406477 human ensembl 70_37 +1 known nonsense c.447 p.Y149* 0.890 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC PAX1 5075 genome.wustl.edu 37 20 21686449 21686449 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 21686449 21686449 C T SNP PAX1 ENST00000398485 human ensembl 70_37 +1 known silent c.99 p.L33 0.003 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC PAX9 5083 genome.wustl.edu 37 14 37131133 37131133 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 37131133 37131133 C T SNP PAX9 ENST00000553267 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors PAX9 HGNC PCDH10 57575 genome.wustl.edu 37 4 134072174 134072174 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 134072174 134072174 T G SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known missense c.879 p.I293M 0.976 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC PCDH9 5101 genome.wustl.edu 37 13 67477724 67477724 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 67477724 67477724 C T SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known missense c.3050 p.S1017N 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC PCDHB5 26167 genome.wustl.edu 37 5 140515550 140515550 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140515550 140515550 T A SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known missense c.534 p.F178L 0.163 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC PCDHGA3 56112 genome.wustl.edu 37 5 140725511 140725511 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140725511 140725511 G A SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known silent c.1911 p.A637 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC PCDHGA5 56110 genome.wustl.edu 37 5 140744600 140744600 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140744600 140744600 G A SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known missense c.703 p.A235T 0.180 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC PCDHGA8 9708 genome.wustl.edu 37 5 140774212 140774212 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140774212 140774212 C T SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.1832 p.A611V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC PCDHGA9 56107 genome.wustl.edu 37 5 140784703 140784703 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140784703 140784703 C A SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known silent c.2184 p.T728 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC PCLO 27445 genome.wustl.edu 37 7 82595784 82595784 + Nonsense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 82595784 82595784 A C SNP PCLO ENST00000333891 human ensembl 70_37 -1 known nonsense c.3320 p.L1107* 1.000 pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCSK5 5125 genome.wustl.edu 37 9 78855546 78855546 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 78855546 78855546 C T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.3088 p.P1030S 0.998 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PCSK5 5125 genome.wustl.edu 37 9 78973574 78973574 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 78973574 78973574 A T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known silent c.5319 p.P1773 0.000 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PDCD10 11235 genome.wustl.edu 37 3 167405449 167405449 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 167405449 167405449 T C SNP PDCD10 ENST00000392750 human ensembl 70_37 -1 known missense c.428 p.D143G 1.000 pfam_DUF1241 pfam_DUF1241 - no_errors PDCD10 HGNC PDCD2L 84306 genome.wustl.edu 37 19 34912433 34912433 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 34912433 34912433 G C SNP PDCD2L ENST00000246535 human ensembl 70_37 +1 known missense c.807 p.W269C 1.000 pfam_PDCD2_C pfam_PDCD2_C - no_errors PDCD2L HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144904697 144904697 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 144904697 144904697 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.2615 p.R872Q 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDLIM3 27295 genome.wustl.edu 37 4 186423481 186423481 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 186423481 186423481 G A SNP PDLIM3 ENST00000284770 human ensembl 70_37 -1 known silent c.1062 p.G354 0.998 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC PDLIM5 10611 genome.wustl.edu 37 4 95539295 95539295 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 95539295 95539295 C T SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.1061 p.S354F 0.279 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC PDPK1 5170 genome.wustl.edu 37 16 2651470 2651470 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2651470 2651470 G A SNP PDPK1 ENST00000561962 human ensembl 70_37 +1 putative rna NULL NULL 0.482 - - - no_errors PDPK1 HGNC PDSS2 57107 genome.wustl.edu 37 6 107780477 107780477 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 107780477 107780477 G A SNP PDSS2 ENST00000369037 human ensembl 70_37 -1 known nonsense c.13 p.Q5* 0.999 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC PGAP1 80055 genome.wustl.edu 37 2 197737724 197737724 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 197737724 197737724 G A SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.1579 p.H527Y 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC PGBD5 79605 genome.wustl.edu 37 1 230493034 230493034 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 230493034 230493034 G A SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known missense c.455 p.A152V 1.000 NULL NULL - no_errors PGBD5 HGNC PGCP1 441897 genome.wustl.edu 37 1 111927180 111927180 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 111927180 111927180 C T SNP PGCP1 ENST00000411951 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors PGCP1 HGNC PGM5 5239 genome.wustl.edu 37 9 71098931 71098931 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 71098931 71098931 G T SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known silent c.1446 p.V482 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC PHKB 5257 genome.wustl.edu 37 16 47699866 47699866 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 47699866 47699866 C T SNP PHKB ENST00000299167 human ensembl 70_37 +1 known missense c.2350 p.R784C 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC PHRF1 57661 genome.wustl.edu 37 11 608302 608302 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 608302 608302 G A SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.2846 p.C949Y 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC PIEZO1 9780 genome.wustl.edu 37 16 88801158 88801158 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88801158 88801158 C T SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel missense c.1897 p.V633M 1.000 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC PIGQ 9091 genome.wustl.edu 37 16 624416 624416 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 624416 624416 G A SNP PIGQ ENST00000026218 human ensembl 70_37 +1 known silent c.342 p.A114 0.001 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC PIK3AP1 118788 genome.wustl.edu 37 10 98469594 98469594 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 98469594 98469594 A C SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known missense c.160 p.S54A 0.954 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC PIK3C3 5289 genome.wustl.edu 37 18 39644745 39644745 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 39644745 39644745 A T SNP PIK3C3 ENST00000262039 human ensembl 70_37 +1 known missense c.2474 p.D825V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC PINK1 65018 genome.wustl.edu 37 1 20966400 20966400 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 20966400 20966400 G A SNP PINK1 ENST00000321556 human ensembl 70_37 +1 known missense c.691 p.E231K 1.000 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 PINK1 HGNC PKD1 5310 genome.wustl.edu 37 16 2160693 2160693 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2160693 2160693 C T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.4475 p.R1492H 0.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1 5310 genome.wustl.edu 37 16 2168330 2168330 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2168330 2168330 G C SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.663 p.L221 0.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1L3 342372 genome.wustl.edu 37 16 71997209 71997209 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 71997209 71997209 C G SNP PKD1L3 ENST00000335106 human ensembl 70_37 -1 known rna NULL NULL 0.711 - - - no_errors PKD1L3 HGNC PKP1 5317 genome.wustl.edu 37 1 201288982 201288982 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 201288982 201288982 C T SNP PKP1 ENST00000263946 human ensembl 70_37 +1 known missense c.1271 p.P424L 0.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC PLCB3 5331 genome.wustl.edu 37 11 64026024 64026024 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 64026024 64026024 C T SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known silent c.1092 p.D364 0.997 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC PLCD1 5333 genome.wustl.edu 37 3 38065673 38065673 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 38065673 38065673 G A SNP PLCD1 ENST00000473834 human ensembl 70_37 -1 putative rna NULL NULL 0.065 - - - no_errors PLCD1 HGNC PLCE1 51196 genome.wustl.edu 37 10 96058365 96058365 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 96058365 96058365 G A SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known silent c.5397 p.P1799 0.997 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLCG1 5335 genome.wustl.edu 37 20 39795201 39795201 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 39795201 39795201 C T SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known missense c.2086 p.R696W 1.000 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC PLCZ1 89869 genome.wustl.edu 37 12 18889263 18889263 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 18889263 18889263 C G SNP PLCZ1 ENST00000541109 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.250 - - - no_errors PLCZ1 HGNC PLD1 5337 genome.wustl.edu 37 3 171394595 171394595 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 171394595 171394595 C G SNP PLD1 ENST00000342215 human ensembl 70_37 -1 known missense c.1697 p.G566A 0.998 NULL pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC PLEKHG3 26030 genome.wustl.edu 37 14 65208577 65208577 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 65208577 65208577 C T SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known missense c.2342 p.P781L 0.918 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC PLEKHG4B 153478 genome.wustl.edu 37 5 171548 171548 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 171548 171548 C T SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.2971 p.R991C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC PLEKHG6 55200 genome.wustl.edu 37 12 6425464 6425464 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 6425464 6425464 G A SNP PLEKHG6 ENST00000011684 human ensembl 70_37 +1 known missense c.650 p.R217Q 0.994 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC PLEKHG7 440107 genome.wustl.edu 37 12 93162806 93162806 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 93162806 93162806 C T SNP PLEKHG7 ENST00000344636 human ensembl 70_37 +1 known nonsense c.982 p.R328* 0.928 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC PLIN2 123 genome.wustl.edu 37 9 19126395 19126395 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 19126395 19126395 C T SNP PLIN2 ENST00000276914 human ensembl 70_37 -1 known silent c.30 p.P10 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC PLIN4 729359 genome.wustl.edu 37 19 4508870 4508870 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4508870 4508870 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.3570 p.Q1190 1.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PLK1S1 55857 genome.wustl.edu 37 20 21142657 21142657 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 21142657 21142657 A C SNP PLK1S1 ENST00000246027 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PLK1S1 HGNC PLXNA1 5361 genome.wustl.edu 37 3 126708574 126708574 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 126708574 126708574 G A SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.1138 p.E380K 0.959 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153694577 153694577 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153694577 153694577 C A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.2763 p.D921E 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153697028 153697028 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153697028 153697028 A G SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.4243 p.M1415V 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PLXNA4 91584 genome.wustl.edu 37 7 131872231 131872231 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 131872231 131872231 T C SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.2992 p.R998G 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC PNPLA6 10908 genome.wustl.edu 37 19 7619897 7619897 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7619897 7619897 G A SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.2783 p.C928Y 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC PNPLA7 375775 genome.wustl.edu 37 9 140396175 140396175 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 140396175 140396175 G A SNP PNPLA7 ENST00000406427 human ensembl 70_37 -1 known missense c.1478 p.S493L 0.981 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC POGZ 23126 genome.wustl.edu 37 1 151400770 151400770 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151400770 151400770 C T SNP POGZ ENST00000271715 human ensembl 70_37 -1 known missense c.688 p.V230I 0.998 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC POLA1 5422 genome.wustl.edu 37 X 24859948 24859948 + Splice_Site SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 24859948 24859948 G C SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known splice_site c.3915+1 e33+1 1.000 - - - no_errors POLA1 HGNC POLD1 5424 genome.wustl.edu 37 19 50910593 50910593 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 50910593 50910593 G A SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known missense c.1696 p.E566K 0.995 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC POLQ 10721 genome.wustl.edu 37 3 121206926 121206927 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121206926 121206927 - T INS POLQ ENST00000264233 human ensembl 70_37 -1 known frame_shift_ins c.4852_4851 p.S1617fs 0.000:0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC POM121L12 285877 genome.wustl.edu 37 7 53103854 53103854 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 53103854 53103854 C T SNP POM121L12 ENST00000408890 human ensembl 70_37 +1 known missense c.490 p.P164S 0.000 NULL NULL - no_errors POM121L12 HGNC POM121L1P 25812 genome.wustl.edu 37 22 22985454 22985454 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 22985454 22985454 C T SNP POM121L1P ENST00000402027 human ensembl 70_37 -1 putative missense c.1103 p.G368D 0.995 NULL NULL - no_errors POM121L1P HGNC POU5F1B 5462 genome.wustl.edu 37 8 128428403 128428403 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 128428403 128428403 G A SNP POU5F1B ENST00000391675 human ensembl 70_37 +1 known missense c.292 p.E98K 0.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC PPFIA3 8541 genome.wustl.edu 37 19 49632669 49632669 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 49632669 49632669 C T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known silent c.540 p.R180 0.699 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC PPIL3 53938 genome.wustl.edu 37 2 201753716 201753716 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 201753716 201753716 A C SNP PPIL3 ENST00000409264 human ensembl 70_37 -1 putative missense c.23 p.F8C 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL3 HGNC PPIP5K2 23262 genome.wustl.edu 37 5 102484962 102484962 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 102484962 102484962 T G SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.851 p.V284G 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC PPL 5493 genome.wustl.edu 37 16 4942154 4942154 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 4942154 4942154 C T SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.1711 p.E571K 0.976 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPM1D 8493 genome.wustl.edu 37 17 58740887 58740887 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 58740887 58740887 C A SNP PPM1D ENST00000305921 human ensembl 70_37 +1 known missense c.1792 p.H598N 1.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC PPM1N 147699 genome.wustl.edu 37 19 46002355 46002355 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46002355 46002355 G C SNP PPM1N ENST00000451287 human ensembl 70_37 +1 known missense c.625 p.E209Q 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1N HGNC PPP1R21 129285 genome.wustl.edu 37 2 48734366 48734366 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 48734366 48734366 C T SNP PPP1R21 ENST00000476199 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors PPP1R21 HGNC PPP1R32 220004 genome.wustl.edu 37 11 61249366 61249366 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 61249366 61249366 G A SNP PPP1R32 ENST00000338608 human ensembl 70_37 +1 known missense c.85 p.A29T 0.979 NULL NULL - no_errors PPP1R32 HGNC PPP4R1L 55370 genome.wustl.edu 37 20 56823266 56823266 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 56823266 56823266 A C SNP PPP4R1L ENST00000334187 human ensembl 70_37 -1 known missense c.673 p.C225G 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1L HGNC PRDM2 7799 genome.wustl.edu 37 1 14108334 14108334 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 14108334 14108334 G A SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known silent c.4044 p.L1348 0.992 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC PRG4 10216 genome.wustl.edu 37 1 186280599 186280599 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 186280599 186280599 G A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.3664 p.D1222N 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRKAR1B 5575 genome.wustl.edu 37 7 590220 590220 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 590220 590220 C T SNP PRKAR1B ENST00000360274 human ensembl 70_37 -1 known silent c.993 p.L331 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC PRKDC 5591 genome.wustl.edu 37 8 48792096 48792096 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 48792096 48792096 G A SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.5188 p.P1730S 0.871 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRMT10 90826 genome.wustl.edu 37 4 148594246 148594246 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 148594246 148594246 C T SNP PRMT10 ENST00000322396 human ensembl 70_37 -1 known missense c.607 p.V203M 0.998 pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC PRPH 5630 genome.wustl.edu 37 12 49691261 49691261 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 49691261 49691261 C T SNP PRPH ENST00000257860 human ensembl 70_37 +1 known missense c.1118 p.A373V 1.000 pfam_F,prints_Keratin_I pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC PRR12 57479 genome.wustl.edu 37 19 50100877 50100877 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 50100877 50100877 C A SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel nonsense c.3285 p.Y1095* 0.795 NULL NULL - no_errors PRR12 HGNC PRR14 78994 genome.wustl.edu 37 16 30666707 30666707 + Nonsense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 30666707 30666707 C G SNP PRR14 ENST00000300835 human ensembl 70_37 +1 known nonsense c.1280 p.S427* 0.484 NULL NULL - no_errors PRR14 HGNC PRR22 163154 genome.wustl.edu 37 19 5783426 5783426 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5783426 5783426 A C SNP PRR22 ENST00000419421 human ensembl 70_37 -1 known missense c.832 p.L278V 0.001 NULL NULL - no_errors PRR22 HGNC PRSS48 345062 genome.wustl.edu 37 4 152198351 152198351 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 152198351 152198351 G A SNP PRSS48 ENST00000455694 human ensembl 70_37 +1 known silent c.27 p.T9 0.001 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS48 HGNC PRTG 283659 genome.wustl.edu 37 15 55912411 55912411 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 55912411 55912411 T G SNP PRTG ENST00000389286 human ensembl 70_37 -1 known silent c.3252 p.V1084 0.243 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC PSG9 5678 genome.wustl.edu 37 19 43762460 43762460 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 43762460 43762460 G C SNP PSG9 ENST00000270077 human ensembl 70_37 -1 known silent c.1137 p.L379 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG9 HGNC PSG9 5678 genome.wustl.edu 37 19 43762463 43762463 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 43762463 43762463 C G SNP PSG9 ENST00000270077 human ensembl 70_37 -1 known missense c.1134 p.K378N 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG9 HGNC PSMA8 143471 genome.wustl.edu 37 18 23714030 23714030 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 23714030 23714030 C T SNP PSMA8 ENST00000308268 human ensembl 70_37 +1 known missense c.101 p.A34V 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC PSMB8 5696 genome.wustl.edu 37 6 32809936 32809936 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32809936 32809936 C A SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.512 p.S171I 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC PSMC6 5706 genome.wustl.edu 37 14 53187672 53187672 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 53187672 53187672 C T SNP PSMC6 ENST00000445930 human ensembl 70_37 +1 known missense c.913 p.R305C 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC PTBP3 9991 genome.wustl.edu 37 9 114990700 114990700 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 114990700 114990700 A G SNP PTBP3 ENST00000458258 human ensembl 70_37 -1 known silent c.1209 p.N403 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC PTCHD2 57540 genome.wustl.edu 37 1 11589700 11589700 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 11589700 11589700 C T SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.2886 p.P962 0.429 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC PTENP1 11191 genome.wustl.edu 37 9 33676355 33676355 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 33676355 33676355 C T SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC PTGES 9536 genome.wustl.edu 37 9 132502013 132502013 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 132502013 132502013 T C SNP PTGES ENST00000340607 human ensembl 70_37 -1 known silent c.336 p.A112 0.060 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors PTGES HGNC PTGFR 5737 genome.wustl.edu 37 1 78958718 78958718 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 78958718 78958718 A G SNP PTGFR ENST00000370757 human ensembl 70_37 +1 known missense c.290 p.E97G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn - no_errors PTGFR HGNC PTK6 5753 genome.wustl.edu 37 20 62160943 62160943 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62160943 62160943 G A SNP PTK6 ENST00000217185 human ensembl 70_37 -1 known silent c.1302 p.F434 0.827 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC PTPN14 5784 genome.wustl.edu 37 1 214706660 214706660 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 214706660 214706660 C A SNP PTPN14 ENST00000491277 human ensembl 70_37 -1 putative rna NULL NULL 0.998 - - - no_errors PTPN14 HGNC PTPN14 5784 genome.wustl.edu 37 1 214706672 214706672 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 214706672 214706672 G T SNP PTPN14 ENST00000491277 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors PTPN14 HGNC PTPRC 5788 genome.wustl.edu 37 1 198711006 198711006 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 198711006 198711006 A C SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.2412 p.E804D 0.930 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC PTPRD 5789 genome.wustl.edu 37 9 8341854 8341854 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 8341854 8341854 C A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.4786 p.V1596F 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC PTPRD 5789 genome.wustl.edu 37 9 8389298 8389298 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 8389298 8389298 C G SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.4320 p.W1440C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC PTPRT 11122 genome.wustl.edu 37 20 41400170 41400170 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 41400170 41400170 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known nonsense c.589 p.R197* 1.000 pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC PTPRU 10076 genome.wustl.edu 37 1 29642524 29642524 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 29642524 29642524 T G SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known missense c.3404 p.I1135S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC PVRIG 79037 genome.wustl.edu 37 7 99818034 99818034 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 99818034 99818034 T A SNP PVRIG ENST00000317271 human ensembl 70_37 +1 known missense c.416 p.F139Y 0.917 NULL NULL - no_errors PVRIG HGNC PWP2 5822 genome.wustl.edu 37 21 45547816 45547816 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 45547816 45547816 G A SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.2144 p.R715H 1.000 smart_WD40_repeat pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC PXN 5829 genome.wustl.edu 37 12 120653737 120653737 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 120653737 120653737 C T SNP PXN ENST00000397506 human ensembl 70_37 -1 known missense c.119 p.R40H 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PXN HGNC QPCTL 54814 genome.wustl.edu 37 19 46206302 46206302 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46206302 46206302 C T SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.1144 p.L382F 1.000 NULL pfam_Peptidase_M28 - no_errors QPCTL HGNC QSER1 79832 genome.wustl.edu 37 11 32955319 32955319 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 32955319 32955319 C T SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.2128 p.H710Y 0.971 NULL NULL - no_errors QSER1 HGNC QSER1 79832 genome.wustl.edu 37 11 32955635 32955635 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 32955635 32955635 T G SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.2444 p.F815C 1.000 NULL NULL - no_errors QSER1 HGNC RAB11FIP2 22841 genome.wustl.edu 37 10 119800044 119800044 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 119800044 119800044 C T SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known missense c.386 p.R129Q 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC RAB33A 9363 genome.wustl.edu 37 X 129306124 129306124 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 129306124 129306124 C A SNP RAB33A ENST00000257017 human ensembl 70_37 +1 known missense c.88 p.Q30K 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC RAB4A 5867 genome.wustl.edu 37 1 229422305 229422305 + Frame_Shift_Del DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 229422305 229422305 A - DEL RAB4A ENST00000366690 human ensembl 70_37 +1 known frame_shift_del c.104 p.K37fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4A HGNC RABGAP1L 9910 genome.wustl.edu 37 1 174769570 174769570 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 174769570 174769570 G A SNP RABGAP1L ENST00000489615 human ensembl 70_37 +1 known missense c.100 p.E34K 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC RAD51AP1 10635 genome.wustl.edu 37 12 4657315 4657315 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 4657315 4657315 C G SNP RAD51AP1 ENST00000228843 human ensembl 70_37 +1 known missense c.428 p.S143C 0.998 NULL NULL - no_errors RAD51AP1 HGNC RALGAPA2 57186 genome.wustl.edu 37 20 20553692 20553692 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 20553692 20553692 C T SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.2728 p.D910N 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC RANBP10 57610 genome.wustl.edu 37 16 67761744 67761744 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 67761744 67761744 C A SNP RANBP10 ENST00000317506 human ensembl 70_37 -1 known missense c.1530 p.R510S 1.000 pfam_CTLH/CRA,smart_CRA_dom pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC RASAL1 8437 genome.wustl.edu 37 12 113546012 113546012 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 113546012 113546012 C T SNP RASAL1 ENST00000546530 human ensembl 70_37 -1 known missense c.1393 p.A465T 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC RBM10 8241 genome.wustl.edu 37 X 47041150 47041150 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47041150 47041150 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known silent c.1578 p.S526 0.999 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC RBM27 54439 genome.wustl.edu 37 5 145608539 145608539 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 145608539 145608539 G A SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known missense c.334 p.D112N 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC RBM39 9584 genome.wustl.edu 37 20 34327244 34327244 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 34327244 34327244 T C SNP RBM39 ENST00000463098 human ensembl 70_37 -1 known rna NULL NULL 0.641 - - - no_errors RBM39 HGNC RBMXL3 139804 genome.wustl.edu 37 X 114424964 114424964 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 114424964 114424964 G A SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.960 p.P320 0.203 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC RBP3 5949 genome.wustl.edu 37 10 48388181 48388181 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 48388181 48388181 C G SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known missense c.2697 p.M899I 0.988 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC RELL2 285613 genome.wustl.edu 37 5 141017340 141017340 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 141017340 141017340 G A SNP RELL2 ENST00000518025 human ensembl 70_37 +1 known rna NULL NULL 0.582 - - - no_errors RELL2 HGNC REN 5972 genome.wustl.edu 37 1 204129706 204129706 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 204129706 204129706 G A SNP REN ENST00000272190 human ensembl 70_37 -1 known silent c.474 p.L158 0.763 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors REN HGNC REN 5972 genome.wustl.edu 37 1 204131240 204131240 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 204131240 204131240 A G SNP REN ENST00000272190 human ensembl 70_37 -1 known silent c.150 p.G50 0.120 pfam_Propep_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors REN HGNC REPS2 9185 genome.wustl.edu 37 X 17095395 17095395 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 17095395 17095395 T G SNP REPS2 ENST00000357277 human ensembl 70_37 +1 known missense c.1381 p.S461A 1.000 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS2 HGNC REST 5978 genome.wustl.edu 37 4 57777658 57777658 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 57777658 57777658 C T SNP REST ENST00000309042 human ensembl 70_37 +1 known missense c.854 p.S285L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC REXO1 57455 genome.wustl.edu 37 19 1819021 1819021 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1819021 1819021 C T SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known silent c.2760 p.L920 0.880 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC RFX4 5992 genome.wustl.edu 37 12 107083095 107083095 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 107083095 107083095 C G SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known missense c.649 p.H217D 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC RFX6 222546 genome.wustl.edu 37 6 117241490 117241490 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 117241490 117241490 C T SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known silent c.1200 p.L400 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC RFX6 222546 genome.wustl.edu 37 6 117250102 117250102 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 117250102 117250102 C T SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known missense c.2579 p.S860L 0.486 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC RGP1 9827 genome.wustl.edu 37 9 35749827 35749827 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 35749827 35749827 C T SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known silent c.195 p.T65 0.280 NULL pfam_Rgp1 - no_errors RGP1 HGNC RGPD2 729857 genome.wustl.edu 37 2 88082561 88082561 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 88082561 88082561 C G SNP RGPD2 ENST00000398146 human ensembl 70_37 -1 known missense c.3982 p.E1328Q 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC RGPD4 285190 genome.wustl.edu 37 2 108443524 108443524 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 108443524 108443524 G A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.55 p.A19T 0.521 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RHOT1 55288 genome.wustl.edu 37 17 30520179 30520179 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 30520179 30520179 G A SNP RHOT1 ENST00000358365 human ensembl 70_37 +1 known missense c.664 p.A222T 1.000 pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC RHPN1 114822 genome.wustl.edu 37 8 144458729 144458729 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 144458729 144458729 G A SNP RHPN1 ENST00000289013 human ensembl 70_37 +1 known missense c.211 p.A71T 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC RIF1 55183 genome.wustl.edu 37 2 152266964 152266964 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 152266964 152266964 C T SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known silent c.27 p.L9 0.010 superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RLIM 51132 genome.wustl.edu 37 X 73811719 73811719 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73811719 73811719 A C SNP RLIM ENST00000332687 human ensembl 70_37 -1 known silent c.1431 p.P477 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC RNF126 55658 genome.wustl.edu 37 19 648250 648250 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 648250 648250 T A SNP RNF126 ENST00000292363 human ensembl 70_37 -1 known missense c.814 p.S272C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC RNF152 220441 genome.wustl.edu 37 18 59483144 59483144 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 59483144 59483144 T C SNP RNF152 ENST00000312828 human ensembl 70_37 -1 known missense c.553 p.I185V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC RNF2 6045 genome.wustl.edu 37 1 185069364 185069364 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 185069364 185069364 C T SNP RNF2 ENST00000367510 human ensembl 70_37 +1 known silent c.942 p.V314 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF2 HGNC RNF213 57674 genome.wustl.edu 37 17 78337555 78337555 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 78337555 78337555 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.11715 p.S3905 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF217 154214 genome.wustl.edu 37 6 125404041 125404042 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 125404041 125404042 - A INS RNF217 ENST00000560949 human ensembl 70_37 +1 known frame_shift_ins c.882_883 p.Q296fs 1.000:1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ROBO3 64221 genome.wustl.edu 37 11 124747913 124747913 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 124747913 124747913 G T SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.3067 p.D1023Y 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC RORC 6097 genome.wustl.edu 37 1 151785499 151785499 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151785499 151785499 G A SNP RORC ENST00000392697 human ensembl 70_37 -1 known silent c.1371 p.F457 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC RP1 6101 genome.wustl.edu 37 8 55534096 55534096 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 55534096 55534096 C T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known silent c.570 p.V190 0.368 pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21790060 21790060 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21790060 21790060 T A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1659 p.D553E 0.006 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPH3A 22895 genome.wustl.edu 37 12 113307748 113307748 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 113307748 113307748 C T SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.700 p.R234C 1.000 NULL pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC RPL6 6128 genome.wustl.edu 37 12 112844564 112844564 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 112844564 112844564 C T SNP RPL6 ENST00000202773 human ensembl 70_37 -1 known missense c.467 p.R156H 1.000 superfamily_Translation_prot_SH3-like pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC RPN1 6184 genome.wustl.edu 37 3 128339366 128339366 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 128339366 128339366 C T SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known missense c.1712 p.R571H 1.000 NULL pfam_Ribophorin_I - no_errors RPN1 HGNC RPS6KB2 6199 genome.wustl.edu 37 11 67202296 67202296 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 67202296 67202296 C T SNP RPS6KB2 ENST00000531765 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RPS6KB2 HGNC RPS6KC1 26750 genome.wustl.edu 37 1 213414589 213414589 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 213414589 213414589 C T SNP RPS6KC1 ENST00000366960 human ensembl 70_37 +1 known silent c.1770 p.L590 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors RPS6KC1 HGNC RPTOR 57521 genome.wustl.edu 37 17 78681708 78681708 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 78681708 78681708 G A SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.416 p.R139H 0.906 prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC RRBP1 6238 genome.wustl.edu 37 20 17639699 17639699 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 17639699 17639699 G A SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.1454 p.A485V 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC RRH 10692 genome.wustl.edu 37 4 110758730 110758730 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 110758730 110758730 G A SNP RRH ENST00000317735 human ensembl 70_37 +1 known missense c.689 p.R230K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC RRN3P2 653390 genome.wustl.edu 37 16 29102154 29102154 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 29102154 29102154 T C SNP RRN3P2 ENST00000427965 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors RRN3P2 HGNC RSBN1L 222194 genome.wustl.edu 37 7 77326009 77326009 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 77326009 77326009 C T SNP RSBN1L ENST00000334955 human ensembl 70_37 +1 known missense c.223 p.P75S 0.642 NULL NULL - no_errors RSBN1L HGNC RTP1 132112 genome.wustl.edu 37 3 186917516 186917516 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 186917516 186917516 C T SNP RTP1 ENST00000312295 human ensembl 70_37 +1 known silent c.450 p.I150 1.000 NULL NULL - no_errors RTP1 HGNC RTTN 25914 genome.wustl.edu 37 18 67860578 67860578 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 67860578 67860578 C G SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.953 p.R318P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC RUNX3 864 genome.wustl.edu 37 1 25254140 25254140 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25254140 25254140 G A SNP RUNX3 ENST00000338888 human ensembl 70_37 -1 known missense c.406 p.R136C 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N - no_errors RUNX3 HGNC RWDD2B 10069 genome.wustl.edu 37 21 30391569 30391569 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 30391569 30391569 C G SNP RWDD2B ENST00000493196 human ensembl 70_37 -1 known missense c.30 p.W10C 0.000 NULL pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC RWDD4 201965 genome.wustl.edu 37 4 184572285 184572285 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 184572285 184572285 C G SNP RWDD4 ENST00000326397 human ensembl 70_37 -1 known splice_site c.216-1 e4-1 1.000 - - - no_errors RWDD4 HGNC RXRB 6257 genome.wustl.edu 37 6 33163791 33163791 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 33163791 33163791 A C SNP RXRB ENST00000374680 human ensembl 70_37 -1 known missense c.1016 p.I339S 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC RYR2 6262 genome.wustl.edu 37 1 237824116 237824116 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 237824116 237824116 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8299 p.E2767K 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR2 6262 genome.wustl.edu 37 1 237838107 237838107 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 237838107 237838107 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8785 p.R2929C 0.875 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR2 6262 genome.wustl.edu 37 1 237935342 237935342 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 237935342 237935342 G T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.11606 p.G3869V 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR3 6263 genome.wustl.edu 37 15 34151870 34151870 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 34151870 34151870 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.14237 p.R4746H 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SAFB 6294 genome.wustl.edu 37 19 5654185 5654185 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5654185 5654185 C T SNP SAFB ENST00000588852 human ensembl 70_37 +1 known missense c.1640 p.S547L 0.674 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC SAFB2 9667 genome.wustl.edu 37 19 5622699 5622699 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5622699 5622699 C A SNP SAFB2 ENST00000252542 human ensembl 70_37 -1 known missense c.28 p.D10Y 0.936 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB2 HGNC SASH1 23328 genome.wustl.edu 37 6 148864862 148864862 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 148864862 148864862 G T SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.2256 p.E752D 0.095 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC SASH1 23328 genome.wustl.edu 37 6 148865568 148865568 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 148865568 148865568 C T SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.2962 p.P988S 0.998 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC SASH3 54440 genome.wustl.edu 37 X 128914080 128914080 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 128914080 128914080 C T SNP SASH3 ENST00000356892 human ensembl 70_37 +1 known missense c.7 p.R3C 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC SBNO2 22904 genome.wustl.edu 37 19 1116100 1116100 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1116100 1116100 C A SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.1805 p.G602V 1.000 NULL NULL - no_errors SBNO2 HGNC SCARB2 950 genome.wustl.edu 37 4 77089622 77089622 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 77089622 77089622 C A SNP SCARB2 ENST00000264896 human ensembl 70_37 -1 known missense c.1121 p.G374V 1.000 pfam_CD36,prints_CD36 pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC SCN10A 6336 genome.wustl.edu 37 3 38743431 38743431 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 38743431 38743431 A C SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.4556 p.F1519C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC SCN2A 6326 genome.wustl.edu 37 2 166170502 166170502 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 166170502 166170502 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.1267 p.V423M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN9A 6335 genome.wustl.edu 37 2 167056375 167056375 + Splice_Site SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 167056375 167056375 C A SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known splice_site c.4778-1 e26-1 1.000 - - - no_errors SCN9A HGNC SCO1 6341 genome.wustl.edu 37 17 10590073 10590073 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 10590073 10590073 C A SNP SCO1 ENST00000255390 human ensembl 70_37 -1 known missense c.742 p.G248C 1.000 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO1 HGNC SEC23A 10484 genome.wustl.edu 37 14 39530996 39530996 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 39530996 39530996 C T SNP SEC23A ENST00000307712 human ensembl 70_37 -1 known missense c.1478 p.R493H 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC SEMA4C 54910 genome.wustl.edu 37 2 97533520 97533520 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 97533520 97533520 G A SNP SEMA4C ENST00000305476 human ensembl 70_37 -1 known missense c.104 p.S35F 1.000 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4C HGNC SEMA6B 10501 genome.wustl.edu 37 19 4548371 4548371 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4548371 4548371 G A SNP SEMA6B ENST00000301293 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.998 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6B HGNC SERINC2 347735 genome.wustl.edu 37 1 31898746 31898746 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 31898746 31898746 G A SNP SERINC2 ENST00000373710 human ensembl 70_37 +1 known missense c.623 p.R208H 0.006 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC SET 6418 genome.wustl.edu 37 9 131457173 131457173 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 131457173 131457173 T G SNP SET ENST00000494141 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SET HGNC SGK2 10110 genome.wustl.edu 37 20 42198062 42198062 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 42198062 42198062 A C SNP SGK2 ENST00000341458 human ensembl 70_37 +1 known missense c.446 p.K149T 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,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK2 HGNC SH2D3A 10045 genome.wustl.edu 37 19 6760703 6760703 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6760703 6760703 C T SNP SH2D3A ENST00000245908 human ensembl 70_37 -1 known missense c.365 p.R122H 0.249 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC SH3BP2 6452 genome.wustl.edu 37 4 2831361 2831361 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 2831361 2831361 G A SNP SH3BP2 ENST00000503393 human ensembl 70_37 +1 known missense c.899 p.G300D 0.870 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC SH3RF1 57630 genome.wustl.edu 37 4 170077646 170077646 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 170077646 170077646 G A SNP SH3RF1 ENST00000284637 human ensembl 70_37 -1 known missense c.578 p.P193L 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC SHANK2 22941 genome.wustl.edu 37 11 70319407 70319407 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 70319407 70319407 C T SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known missense c.5120 p.R1707H 0.864 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,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 SHANK2 HGNC SHC2 25759 genome.wustl.edu 37 19 422217 422217 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 422217 422217 C T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known missense c.1549 p.G517R 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC SHC2 25759 genome.wustl.edu 37 19 438806 438806 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 438806 438806 C T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known missense c.632 p.G211D 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC SHKBP1 92799 genome.wustl.edu 37 19 41083465 41083465 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 41083465 41083465 C T SNP SHKBP1 ENST00000595523 human ensembl 70_37 +1 known missense c.17 p.S6F 1.000 NULL NULL - no_errors SHKBP1 HGNC SHROOM1 134549 genome.wustl.edu 37 5 132161042 132161042 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 132161042 132161042 G A SNP SHROOM1 ENST00000378679 human ensembl 70_37 -1 known missense c.791 p.A264V 0.000 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC SHROOM3 57619 genome.wustl.edu 37 4 77476820 77476820 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 77476820 77476820 T C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.227 p.V76A 0.988 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC SIGLEC12 89858 genome.wustl.edu 37 19 52003582 52003582 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52003582 52003582 C A SNP SIGLEC12 ENST00000598614 human ensembl 70_37 -1 putative missense c.46 p.G16C 0.005 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC SKA1 220134 genome.wustl.edu 37 18 47917639 47917639 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 47917639 47917639 G C SNP SKA1 ENST00000285116 human ensembl 70_37 +1 known missense c.595 p.D199H 1.000 pfam_DUF1395 pfam_DUF1395 - no_errors SKA1 HGNC SLC12A2 6558 genome.wustl.edu 37 5 127449946 127449946 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 127449946 127449946 A T SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known nonsense c.919 p.R307* 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC SLC12A7 10723 genome.wustl.edu 37 5 1087130 1087130 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 1087130 1087130 A G SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known missense c.563 p.M188T 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC SLC15A2 6565 genome.wustl.edu 37 3 121647918 121647918 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121647918 121647918 T C SNP SLC15A2 ENST00000489711 human ensembl 70_37 +1 known silent c.1431 p.T477 0.329 pfam_POT_fam,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC SLC18A2 6571 genome.wustl.edu 37 10 119015165 119015165 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 119015165 119015165 G A SNP SLC18A2 ENST00000298472 human ensembl 70_37 +1 known missense c.892 p.A298T 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC SLC18B1 116843 genome.wustl.edu 37 6 133100476 133100476 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 133100476 133100476 G A SNP SLC18B1 ENST00000275227 human ensembl 70_37 -1 known silent c.726 p.F242 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC SLC24A3 57419 genome.wustl.edu 37 20 19701772 19701772 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 19701772 19701772 C T SNP SLC24A3 ENST00000328041 human ensembl 70_37 +1 known silent c.1923 p.C641 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC SLC8B1 80024 genome.wustl.edu 37 12 113753242 113753242 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 113753242 113753242 C T SNP SLC24A6 ENST00000202831 human ensembl 70_37 -1 known missense c.1033 p.V345M 0.983 NULL pfam_NaCa_Exmemb - no_errors SLC24A6 HGNC SLC25A11 8402 genome.wustl.edu 37 17 4842251 4842251 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 4842251 4842251 G A SNP SLC25A11 ENST00000225665 human ensembl 70_37 -1 known missense c.268 p.R90C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A11 HGNC SLC25A51 92014 genome.wustl.edu 37 9 37888412 37888412 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 37888412 37888412 C T SNP SLC25A51 ENST00000242275 human ensembl 70_37 -1 known missense c.136 p.A46T 0.182 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC SLC34A2 10568 genome.wustl.edu 37 4 25677956 25677956 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 25677956 25677956 G A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.1658 p.R553Q 0.294 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC SLC35A2 7355 genome.wustl.edu 37 X 48760736 48760736 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48760736 48760736 G A SNP SLC35A2 ENST00000376529 human ensembl 70_37 -1 known missense c.580 p.H194Y 1.000 NULL pfam_Nuc_sug_transpt - no_errors SLC35A2 HGNC SLC35E1 79939 genome.wustl.edu 37 19 16683100 16683100 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 16683100 16683100 C T SNP SLC35E1 ENST00000595753 human ensembl 70_37 -1 known missense c.76 p.E26K 1.000 NULL pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC SLC40A1 30061 genome.wustl.edu 37 2 190430189 190430189 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 190430189 190430189 G A SNP SLC40A1 ENST00000261024 human ensembl 70_37 -1 known silent c.651 p.C217 0.998 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC SLC44A5 204962 genome.wustl.edu 37 1 75702683 75702683 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 75702683 75702683 A T SNP SLC44A5 ENST00000370855 human ensembl 70_37 -1 known nonsense c.729 p.Y243* 0.994 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC SLC46A3 283537 genome.wustl.edu 37 13 29275325 29275325 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 29275325 29275325 C G SNP SLC46A3 ENST00000475385 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC SLC4A7 9497 genome.wustl.edu 37 3 27473106 27473106 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 27473106 27473106 T C SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known missense c.833 p.N278S 1.000 pfam_HCO3_transpt_cyt pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC SLC5A3 6526 genome.wustl.edu 37 21 35469242 35469242 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 35469242 35469242 T G SNP SLC5A3 ENST00000381151 human ensembl 70_37 +1 known missense c.1745 p.I582S 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC SLC6A6 6533 genome.wustl.edu 37 3 14487300 14487300 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 14487300 14487300 G A SNP SLC6A6 ENST00000360861 human ensembl 70_37 +1 known missense c.305 p.G102D 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC SLC9A2 6549 genome.wustl.edu 37 2 103274408 103274408 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 103274408 103274408 C T SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known silent c.675 p.V225 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC SLC9A3R2 9351 genome.wustl.edu 37 16 2087934 2087934 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2087934 2087934 C T SNP SLC9A3R2 ENST00000424542 human ensembl 70_37 +1 known silent c.963 p.R321 1.000 pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R2 HGNC SLC9A6 10479 genome.wustl.edu 37 X 135095119 135095119 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 135095119 135095119 C T SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known silent c.1053 p.F351 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC SLC9A7 84679 genome.wustl.edu 37 X 46513050 46513050 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 46513050 46513050 A C SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.1138 p.F380V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC SLC9A7P1 121456 genome.wustl.edu 37 12 98848804 98848804 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 98848804 98848804 G A SNP SLC9A7P1 ENST00000554295 human ensembl 70_37 -1 putative rna NULL NULL 0.985 - - - no_errors SLC9A7P1 HGNC SLC9C2 284525 genome.wustl.edu 37 1 173506101 173506101 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 173506101 173506101 G T SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known nonsense c.1635 p.C545* 0.890 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC SLC9C2 284525 genome.wustl.edu 37 1 173551050 173551050 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 173551050 173551050 A T SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known silent c.738 p.V246 0.248 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC SLCO1B1 10599 genome.wustl.edu 37 12 21375257 21375257 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 21375257 21375257 C T SNP SLCO1B1 ENST00000256958 human ensembl 70_37 +1 known missense c.1706 p.S569L 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC SLIT2 9353 genome.wustl.edu 37 4 20597356 20597356 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 20597356 20597356 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known silent c.3219 p.C1073 0.965 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SLIT2 9353 genome.wustl.edu 37 4 20597410 20597410 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 20597410 20597410 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known silent c.3273 p.C1091 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SLIT2 9353 genome.wustl.edu 37 4 20620537 20620537 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 20620537 20620537 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.4495 p.R1499W 0.999 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SLX4IP 128710 genome.wustl.edu 37 20 10602039 10602039 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 10602039 10602039 C G SNP SLX4IP ENST00000334534 human ensembl 70_37 +1 known silent c.483 p.L161 0.037 NULL NULL - no_errors SLX4IP HGNC SMAD4 4089 genome.wustl.edu 37 18 48573511 48573511 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 48573511 48573511 G C SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.95 p.S32T 1.000 superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC SMARCA1 6594 genome.wustl.edu 37 X 128615115 128615115 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 128615115 128615115 T C SNP SMARCA1 ENST00000371122 human ensembl 70_37 -1 known silent c.2265 p.A755 0.258 NULL pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11105560 11105560 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11105560 11105560 C A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.1476 p.S492 0.010 pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SMG5 23381 genome.wustl.edu 37 1 156236369 156236369 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156236369 156236369 G A SNP SMG5 ENST00000361813 human ensembl 70_37 -1 known silent c.1218 p.G406 0.948 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC SMG6 23293 genome.wustl.edu 37 17 2201296 2201296 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 2201296 2201296 G C SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.1901 p.S634C 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC SMOC2 64094 genome.wustl.edu 37 6 168947799 168947799 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 168947799 168947799 A T SNP SMOC2 ENST00000354536 human ensembl 70_37 +1 known missense c.545 p.D182V 1.000 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC SMPD2 6610 genome.wustl.edu 37 6 109763769 109763769 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 109763769 109763769 G A SNP SMPD2 ENST00000258052 human ensembl 70_37 +1 known silent c.432 p.Q144 0.984 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD2 HGNC SMTN 6525 genome.wustl.edu 37 22 31487222 31487222 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31487222 31487222 G A SNP SMTN ENST00000347557 human ensembl 70_37 +1 known missense c.1213 p.A405T 1.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC SMYD3 64754 genome.wustl.edu 37 1 246670379 246670379 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 246670379 246670379 G A SNP SMYD3 ENST00000388985 human ensembl 70_37 -1 known silent c.141 p.V47 0.624 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC SNAPC4 6621 genome.wustl.edu 37 9 139276738 139276738 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 139276738 139276738 G C SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known silent c.2034 p.L678 0.002 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC SND1 27044 genome.wustl.edu 37 7 127732189 127732189 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 127732189 127732189 A C SNP SND1 ENST00000485871 human ensembl 70_37 +1 known rna NULL NULL 0.842 - - - no_errors SND1 HGNC SNORA45 677826 genome.wustl.edu 37 11 8707103 8707103 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 8707103 8707103 G T SNP SNORA45 ENST00000391305 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors SNORA45 HGNC SNX12 29934 genome.wustl.edu 37 X 70280810 70280810 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70280810 70280810 G A SNP SNX12 ENST00000465030 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNX12 HGNC SNX20 124460 genome.wustl.edu 37 16 50707340 50707340 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 50707340 50707340 T A SNP SNX20 ENST00000330943 human ensembl 70_37 -1 known missense c.928 p.T310S 0.047 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC SNX32 254122 genome.wustl.edu 37 11 65617642 65617642 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 65617642 65617642 C A SNP SNX32 ENST00000308342 human ensembl 70_37 +1 known missense c.274 p.P92T 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC SOBP 55084 genome.wustl.edu 37 6 107956596 107956596 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 107956596 107956596 C T SNP SOBP ENST00000317357 human ensembl 70_37 +1 known missense c.2548 p.L850F 1.000 NULL NULL - no_errors SOBP HGNC SORT1 6272 genome.wustl.edu 37 1 109883466 109883466 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109883466 109883466 G A SNP SORT1 ENST00000256637 human ensembl 70_37 -1 known nonsense c.1144 p.R382* 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC SOX2 6657 genome.wustl.edu 37 3 181430346 181430346 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 181430346 181430346 G A SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known missense c.198 p.M66I 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC SPAM1 6677 genome.wustl.edu 37 7 123594460 123594460 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 123594460 123594460 G A SNP SPAM1 ENST00000340011 human ensembl 70_37 +1 known missense c.836 p.R279H 0.991 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase - no_errors SPAM1 HGNC SPATA13 221178 genome.wustl.edu 37 13 24798688 24798688 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 24798688 24798688 G A SNP SPATA13 ENST00000382108 human ensembl 70_37 +1 known missense c.1621 p.A541T 0.008 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC SPATA31D5P 347127 genome.wustl.edu 37 9 84532636 84532636 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 84532636 84532636 A C SNP SPATA31D5P ENST00000527857 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SPATA31D5P HGNC SPATA5 166378 genome.wustl.edu 37 4 123844350 123844350 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 123844350 123844350 C T SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known missense c.53 p.S18L 0.142 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC SPDYA 245711 genome.wustl.edu 37 2 29052078 29052078 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 29052078 29052078 T C SNP SPDYA ENST00000334056 human ensembl 70_37 +1 known silent c.445 p.L149 0.994 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC SPDYE2 441273 genome.wustl.edu 37 7 102194904 102194904 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 102194904 102194904 G A SNP SPDYE2 ENST00000507918 human ensembl 70_37 +1 known missense c.259 p.A87T 0.144 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE2 HGNC SPEN 23013 genome.wustl.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 16255142 16255143 GA - DEL SPEN ENST00000375759 human ensembl 70_37 +1 known frame_shift_del c.2407_2408 p.R806fs 0.999:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPG11 80208 genome.wustl.edu 37 15 44907617 44907617 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 44907617 44907617 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known silent c.2982 p.L994 0.952 NULL NULL - no_errors SPG11 HGNC SPHKAP 80309 genome.wustl.edu 37 2 228855752 228855752 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 228855752 228855752 G C SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.4923 p.I1641M 1.000 pfam_AKAP_110_C pfam_AKAP_110_C - no_errors SPHKAP HGNC SPHKAP 80309 genome.wustl.edu 37 2 228881750 228881750 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 228881750 228881750 C T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.3820 p.V1274M 0.690 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC SPINK5 11005 genome.wustl.edu 37 5 147499874 147499875 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 147499874 147499875 - A INS SPINK5 ENST00000359874 human ensembl 70_37 +1 known frame_shift_ins c.2458_2459 p.K824fs 1.000:0.998 pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC SPOCK2 9806 genome.wustl.edu 37 10 73828011 73828011 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 73828011 73828011 G A SNP SPOCK2 ENST00000317376 human ensembl 70_37 -1 known nonsense c.523 p.R175* 0.970 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC SPTA1 6708 genome.wustl.edu 37 1 158606460 158606460 + Frame_Shift_Del DEL C C - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 158606460 158606460 C - DEL SPTA1 ENST00000368148 human ensembl 70_37 -1 known frame_shift_del c.5281 p.E1761fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC SRGAP1 57522 genome.wustl.edu 37 12 64458903 64458903 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 64458903 64458903 C T SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.1029 p.C343 0.999 superfamily_Fuc/Ara_isomerase_C pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SSPO 23145 genome.wustl.edu 37 7 149489010 149489010 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 149489010 149489010 G A SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.128 - - - no_errors SSPO HGNC SSUH2 51066 genome.wustl.edu 37 3 8672598 8672598 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 8672598 8672598 G A SNP SSUH2 ENST00000544814 human ensembl 70_37 -1 known missense c.418 p.P140S 0.907 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC SSX7 280658 genome.wustl.edu 37 X 52681983 52681983 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 52681983 52681983 T G SNP SSX7 ENST00000298181 human ensembl 70_37 -1 known missense c.121 p.K41Q 0.003 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ST3GAL5 8869 genome.wustl.edu 37 2 86090554 86090554 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 86090554 86090554 G A SNP ST3GAL5 ENST00000377332 human ensembl 70_37 -1 known missense c.137 p.S46F 0.934 NULL pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ST3GAL6 10402 genome.wustl.edu 37 3 98501744 98501744 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 98501744 98501744 C T SNP ST3GAL6 ENST00000466482 human ensembl 70_37 +1 known rna NULL NULL 0.861 - - - no_errors ST3GAL6 HGNC STC1 6781 genome.wustl.edu 37 8 23702481 23702481 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 23702481 23702481 C T SNP STC1 ENST00000290271 human ensembl 70_37 -1 known silent c.546 p.L182 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC1 HGNC STK11IP 114790 genome.wustl.edu 37 2 220479926 220479926 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 220479926 220479926 G A SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.2980 p.E994K 0.872 NULL NULL - no_errors STK11IP HGNC STK4 6789 genome.wustl.edu 37 20 43623740 43623740 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 43623740 43623740 G A SNP STK4 ENST00000372806 human ensembl 70_37 +1 known missense c.535 p.A179T 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,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC STOX2 56977 genome.wustl.edu 37 4 184932745 184932746 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 184932745 184932746 - A INS STOX2 ENST00000438269 human ensembl 70_37 +1 known frame_shift_ins c.2591_2592 p.*865fs 1.000:0.998 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC STX2 2054 genome.wustl.edu 37 12 131297555 131297555 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 131297555 131297555 T A SNP STX2 ENST00000392373 human ensembl 70_37 -1 known missense c.227 p.D76V 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC SUSD4 55061 genome.wustl.edu 37 1 223536672 223536672 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 223536672 223536672 C G SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known silent c.96 p.V32 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC SVEP1 79987 genome.wustl.edu 37 9 113217900 113217900 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 113217900 113217900 A C SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.3757 p.F1253V 0.997 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SWT1 54823 genome.wustl.edu 37 1 185130004 185130004 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 185130004 185130004 G C SNP SWT1 ENST00000367500 human ensembl 70_37 +1 known missense c.31 p.E11Q 0.789 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152614828 152614828 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 152614828 152614828 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.17907 p.Q5969 0.998 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 SYNE4 163183 genome.wustl.edu 37 19 36497520 36497520 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36497520 36497520 C T SNP SYNE4 ENST00000324444 human ensembl 70_37 -1 known silent c.672 p.S224 0.000 NULL pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC SYNRG 11276 genome.wustl.edu 37 17 35879070 35879070 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 35879070 35879070 A G SNP SYNRG ENST00000339208 human ensembl 70_37 -1 known silent c.3918 p.P1306 0.966 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC SYT10 341359 genome.wustl.edu 37 12 33529812 33529812 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 33529812 33529812 C G SNP SYT10 ENST00000228567 human ensembl 70_37 -1 known missense c.1525 p.D509H 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC SYT16 83851 genome.wustl.edu 37 14 62550973 62550973 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 62550973 62550973 G A SNP SYT16 ENST00000430451 human ensembl 70_37 +1 novel silent c.1494 p.T498 0.937 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT16 HGNC TAB3 257397 genome.wustl.edu 37 X 30872356 30872356 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 30872356 30872356 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1426 p.R476C 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC TADA2B 93624 genome.wustl.edu 37 4 7056023 7056023 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 7056023 7056023 C A SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known missense c.505 p.L169M 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC TAF1 6872 genome.wustl.edu 37 X 70601676 70601676 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70601676 70601676 G C SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.1441 p.E481Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TAF1 6872 genome.wustl.edu 37 X 70601684 70601684 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70601684 70601684 T A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.1449 p.N483K 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TAF1 6872 genome.wustl.edu 37 X 70621404 70621404 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70621404 70621404 T G SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.3810 p.I1270M 0.999 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TAF4 6874 genome.wustl.edu 37 20 60581658 60581658 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 60581658 60581658 C T SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known missense c.2131 p.A711T 0.998 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC TANC1 85461 genome.wustl.edu 37 2 160074021 160074021 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 160074021 160074021 C T SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known silent c.3258 p.A1086 0.056 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TAS1R3 83756 genome.wustl.edu 37 1 1267287 1267287 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1267287 1267287 G A SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known missense c.461 p.G154D 0.992 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC TBC1D9B 23061 genome.wustl.edu 37 5 179306763 179306763 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 179306763 179306763 C T SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known silent c.1281 p.S427 0.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC TBCEL 219899 genome.wustl.edu 37 11 120957533 120957533 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 120957533 120957533 G A SNP TBCEL ENST00000422003 human ensembl 70_37 +1 known missense c.1003 p.E335K 1.000 pfscan_Ubiquitin_supergroup pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC TBK1 29110 genome.wustl.edu 37 12 64858234 64858234 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 64858234 64858234 C T SNP TBK1 ENST00000331710 human ensembl 70_37 +1 known nonsense c.349 p.R117* 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 TBK1 HGNC TBPL2 387332 genome.wustl.edu 37 14 55895676 55895676 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 55895676 55895676 G T SNP TBPL2 ENST00000247219 human ensembl 70_37 -1 known missense c.805 p.L269I 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBPL2 HGNC TCHHL1 126637 genome.wustl.edu 37 1 152059991 152059991 + Frame_Shift_Del DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 152059991 152059991 T - DEL TCHHL1 ENST00000368806 human ensembl 70_37 -1 known frame_shift_del c.167 p.N56fs 0.002 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC TCHP 84260 genome.wustl.edu 37 12 110348891 110348891 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 110348891 110348891 G T SNP TCHP ENST00000312777 human ensembl 70_37 +1 known missense c.903 p.Q301H 1.000 NULL NULL - no_errors TCHP HGNC TCTEX1D2 255758 genome.wustl.edu 37 3 196042995 196042995 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 196042995 196042995 G A SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.221 p.S74L 1.000 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC TCTEX1D2 255758 genome.wustl.edu 37 3 196043091 196043091 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 196043091 196043091 G A SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.125 p.S42F 0.987 NULL pfam_Tctex - no_errors TCTEX1D2 HGNC TENM1 10178 genome.wustl.edu 37 X 123518301 123518301 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 123518301 123518301 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known silent c.6480 p.Y2160 0.359 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TEP1 7011 genome.wustl.edu 37 14 20845581 20845581 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20845581 20845581 T A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known silent c.5946 p.V1982 0.004 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TEP1 7011 genome.wustl.edu 37 14 20852820 20852820 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20852820 20852820 C T SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.3160 p.A1054T 0.398 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TEP1 7011 genome.wustl.edu 37 14 20859825 20859825 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20859825 20859825 C T SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.2030 p.R677H 1.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TET3 200424 genome.wustl.edu 37 2 74275303 74275303 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 74275303 74275303 C T SNP TET3 ENST00000409262 human ensembl 70_37 +1 known silent c.1854 p.S618 1.000 NULL NULL - no_errors TET3 HGNC TEX30 93081 genome.wustl.edu 37 13 103420662 103420662 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 103420662 103420662 C G SNP TEX30 ENST00000376032 human ensembl 70_37 -1 known splice_site c.247-1 e3-1 0.998 - - - no_errors TEX30 HGNC TFE3 7030 genome.wustl.edu 37 X 48895555 48895555 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48895555 48895555 C T SNP TFE3 ENST00000315869 human ensembl 70_37 -1 known missense c.865 p.G289R 0.991 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFE3 HGNC TGFBR3L 100507588 genome.wustl.edu 37 19 7982967 7982967 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7982967 7982967 G A SNP TGFBR3L ENST00000565886 human ensembl 70_37 +1 putative silent c.909 p.A303 0.000 NULL pfam_ZP_dom - no_errors TGFBR3L HGNC TGIF2LX 90316 genome.wustl.edu 37 X 89177089 89177089 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 89177089 89177089 A G SNP TGIF2LX ENST00000283891 human ensembl 70_37 +1 known missense c.5 p.E2G 0.081 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2LX HGNC THADA 63892 genome.wustl.edu 37 2 43458382 43458382 + Nonsense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 43458382 43458382 G C SNP THADA ENST00000405006 human ensembl 70_37 -1 known nonsense c.5567 p.S1856* 0.002 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC THOP1 7064 genome.wustl.edu 37 19 2810715 2810715 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 2810715 2810715 G A SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.1720 p.E574K 0.318 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC TIA1 7072 genome.wustl.edu 37 2 70454926 70454926 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 70454926 70454926 G T SNP TIA1 ENST00000477044 human ensembl 70_37 -1 known nonsense c.458 p.S153* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC TIMM44 10469 genome.wustl.edu 37 19 7997609 7997609 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7997609 7997609 G A SNP TIMM44 ENST00000270538 human ensembl 70_37 -1 known missense c.890 p.S297L 0.999 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC TMBIM4 51643 genome.wustl.edu 37 12 66539731 66539731 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 66539731 66539731 G A SNP TMBIM4 ENST00000358230 human ensembl 70_37 -1 known silent c.354 p.F118 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC TMC1 117531 genome.wustl.edu 37 9 75420362 75420362 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 75420362 75420362 T G SNP TMC1 ENST00000297784 human ensembl 70_37 +1 known missense c.1631 p.F544C 1.000 pfam_TMC pfam_TMC - no_errors TMC1 HGNC TMCO3 55002 genome.wustl.edu 37 13 114201654 114201654 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 114201654 114201654 C T SNP TMCO3 ENST00000434316 human ensembl 70_37 +1 known missense c.1730 p.T577M 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC TMED1 11018 genome.wustl.edu 37 19 10945990 10945990 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10945990 10945990 C A SNP TMED1 ENST00000214869 human ensembl 70_37 -1 known nonsense c.223 p.E75* 1.000 pfam_GOLD,superfamily_GOLD,pfscan_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC TMEM120A 83862 genome.wustl.edu 37 7 75616592 75616592 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 75616592 75616592 G A SNP TMEM120A ENST00000338761 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors TMEM120A HGNC TMEM131 23505 genome.wustl.edu 37 2 98449874 98449874 + Nonsense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 98449874 98449874 A C SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known nonsense c.1028 p.L343* 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC TMEM132B 114795 genome.wustl.edu 37 12 126139090 126139090 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 126139090 126139090 T A SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.3071 p.V1024D 1.000 NULL NULL - no_errors TMEM132B HGNC TMEM132C 92293 genome.wustl.edu 37 12 129189681 129189681 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 129189681 129189681 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.2168 p.T723M 1.000 NULL NULL - no_errors TMEM132C HGNC TMEM145 284339 genome.wustl.edu 37 19 42818959 42818959 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 42818959 42818959 G A SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known missense c.376 p.G126R 1.000 NULL pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC TMEM184A 202915 genome.wustl.edu 37 7 1588237 1588237 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 1588237 1588237 G A SNP TMEM184A ENST00000297477 human ensembl 70_37 -1 known silent c.732 p.T244 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC TMEM187 8269 genome.wustl.edu 37 X 153248009 153248009 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153248009 153248009 G A SNP TMEM187 ENST00000369982 human ensembl 70_37 +1 known missense c.496 p.A166T 0.007 NULL NULL - no_errors TMEM187 HGNC TMEM229A 730130 genome.wustl.edu 37 7 123672195 123672195 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 123672195 123672195 C G SNP TMEM229A ENST00000455783 human ensembl 70_37 -1 known missense c.863 p.S288T 1.000 NULL NULL - no_errors TMEM229A HGNC TMEM57 55219 genome.wustl.edu 37 1 25783176 25783176 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25783176 25783176 G T SNP TMEM57 ENST00000374343 human ensembl 70_37 +1 known missense c.506 p.G169V 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC TMEM80 283232 genome.wustl.edu 37 11 695769 695769 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 695769 695769 G A SNP TMEM80 ENST00000397510 human ensembl 70_37 +1 known missense c.17 p.R6Q 0.009 NULL pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC TMOD1 7111 genome.wustl.edu 37 9 100315615 100315615 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100315615 100315615 G A SNP TMOD1 ENST00000259365 human ensembl 70_37 +1 known silent c.330 p.V110 0.999 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD1 HGNC TMPRSS12 283471 genome.wustl.edu 37 12 51279034 51279034 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 51279034 51279034 G A SNP TMPRSS12 ENST00000398458 human ensembl 70_37 +1 known missense c.658 p.A220T 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS12 HGNC TMTC1 83857 genome.wustl.edu 37 12 29659559 29659559 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 29659559 29659559 C G SNP TMTC1 ENST00000319685 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMTC1 HGNC TMTC3 160418 genome.wustl.edu 37 12 88586525 88586525 + Frame_Shift_Del DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 88586525 88586525 A - DEL TMTC3 ENST00000266712 human ensembl 70_37 +1 known frame_shift_del c.1851 p.N619fs 0.393 pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC TNFAIP8L2 79626 genome.wustl.edu 37 1 151131683 151131683 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151131683 151131683 G C SNP TNFAIP8L2 ENST00000368910 human ensembl 70_37 +1 known missense c.510 p.K170N 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L2 HGNC TNFRSF13B 23495 genome.wustl.edu 37 17 16843020 16843020 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 16843020 16843020 C T SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known silent c.723 p.T241 0.998 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC TNFRSF13B 23495 genome.wustl.edu 37 17 16852098 16852098 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 16852098 16852098 C T SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known silent c.399 p.S133 0.000 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC TNFSF13B 10673 genome.wustl.edu 37 13 108955643 108955643 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 108955643 108955643 G A SNP TNFSF13B ENST00000375887 human ensembl 70_37 +1 known missense c.524 p.G175E 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors TNFSF13B HGNC TNFSF13B 10673 genome.wustl.edu 37 13 108955665 108955665 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 108955665 108955665 G A SNP TNFSF13B ENST00000375887 human ensembl 70_37 +1 known silent c.546 p.E182 0.998 pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors TNFSF13B HGNC TNRC6A 27327 genome.wustl.edu 37 16 24835021 24835021 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 24835021 24835021 C A SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.5782 p.L1928M 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC TOMM34 10953 genome.wustl.edu 37 20 43572097 43572097 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 43572097 43572097 G C SNP TOMM34 ENST00000372813 human ensembl 70_37 -1 known silent c.822 p.L274 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC TOMM70A 9868 genome.wustl.edu 37 3 100105139 100105139 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 100105139 100105139 T A SNP TOMM70A ENST00000284320 human ensembl 70_37 -1 known missense c.548 p.N183I 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC TOMM70A 9868 genome.wustl.edu 37 3 100105146 100105146 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 100105146 100105146 C G SNP TOMM70A ENST00000284320 human ensembl 70_37 -1 known missense c.541 p.E181Q 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC TONSL 4796 genome.wustl.edu 37 8 145659401 145659401 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 145659401 145659401 C T SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.3347 p.R1116H 0.491 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC TONSL 4796 genome.wustl.edu 37 8 145661528 145661528 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 145661528 145661528 G A SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.2288 p.S763L 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC TOP3A 7156 genome.wustl.edu 37 17 18194243 18194243 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 18194243 18194243 G A SNP TOP3A ENST00000321105 human ensembl 70_37 -1 known silent c.1380 p.I460 0.820 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC TPD52L3 89882 genome.wustl.edu 37 9 6328621 6328621 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 6328621 6328621 C G SNP TPD52L3 ENST00000344545 human ensembl 70_37 +1 known missense c.26 p.S9C 0.001 pfam_TPD52 pfam_TPD52 - no_errors TPD52L3 HGNC TPT1-AS1 100190939 genome.wustl.edu 37 13 45963874 45963874 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 45963874 45963874 A C SNP TPT1-AS1 ENST00000405697 human ensembl 70_37 +1 known rna NULL NULL 0.913 - - - no_errors TPT1-AS1 HGNC TPTE 7179 genome.wustl.edu 37 21 10996072 10996072 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 10996072 10996072 G A SNP TPTE ENST00000415664 human ensembl 70_37 -1 known rna NULL NULL 0.933 - - - no_errors TPTE HGNC TRAPPC12 51112 genome.wustl.edu 37 2 3391601 3391601 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 3391601 3391601 C T SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known silent c.207 p.S69 0.965 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC TRAPPC2P1 10597 genome.wustl.edu 37 19 57876218 57876218 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 57876218 57876218 A G SNP TRAPPC2P1 ENST00000543226 human ensembl 70_37 +1 putative missense c.17 p.Y6C 1.000 superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2P1 HGNC TRAPPC9 83696 genome.wustl.edu 37 8 141415695 141415695 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 141415695 141415695 G A SNP TRAPPC9 ENST00000389328 human ensembl 70_37 -1 known missense c.1283 p.A428V 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC TREML2 79865 genome.wustl.edu 37 6 41168713 41168714 + In_Frame_Ins INS - - CAG TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 41168713 41168714 - CAG INS TREML2 ENST00000483722 human ensembl 70_37 -1 known in_frame_ins c.34_33 p.11in_frame_insL 1.000:0.997 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors TREML2 HGNC TRIM24 8805 genome.wustl.edu 37 7 138252327 138252327 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 138252327 138252327 G C SNP TRIM24 ENST00000343526 human ensembl 70_37 +1 known missense c.1632 p.Q544H 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC TRIM35 23087 genome.wustl.edu 37 8 27145235 27145235 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 27145235 27145235 C T SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known silent c.1314 p.E438 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5624476 5624476 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 5624476 5624476 G A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 70_37 +1 known silent c.18 p.R6 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC TRIML1 339976 genome.wustl.edu 37 4 189060882 189060882 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 189060882 189060882 G A SNP TRIML1 ENST00000332517 human ensembl 70_37 +1 known nonsense c.170 p.W57* 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC TRIO 7204 genome.wustl.edu 37 5 14291265 14291265 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 14291265 14291265 G C SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.981 p.Q327H 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC TRIO 7204 genome.wustl.edu 37 5 14316834 14316834 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 14316834 14316834 C T SNP TRIO ENST00000344204 human ensembl 70_37 +1 known silent c.1713 p.F571 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC TRIP12 9320 genome.wustl.edu 37 2 230672494 230672494 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 230672494 230672494 G A SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known missense c.2282 p.A761V 1.000 superfamily_ARM-type_fold,pfscan_WWE-dom pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TRPC2 7221 genome.wustl.edu 37 11 3658459 3658459 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 3658459 3658459 C T SNP TRPC2 ENST00000526541 human ensembl 70_37 +1 known rna NULL NULL 0.834 - - - no_errors TRPC2 HGNC TRPC7 57113 genome.wustl.edu 37 5 135561831 135561831 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 135561831 135561831 A C SNP TRPC7 ENST00000513104 human ensembl 70_37 -1 known missense c.2153 p.F718C 1.000 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_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC TRPM8 79054 genome.wustl.edu 37 2 234835193 234835193 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 234835193 234835193 G A SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.11 p.R4Q 0.268 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC TRPM8 79054 genome.wustl.edu 37 2 234891780 234891780 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 234891780 234891780 G C SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.2673 p.Q891H 0.958 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM8 HGNC TRPV6 55503 genome.wustl.edu 37 7 142573658 142573658 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 142573658 142573658 C T SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known splice_site c.763-1 e7-1 1.000 - - - no_errors TRPV6 HGNC TSC22D3 1831 genome.wustl.edu 37 X 106959164 106959164 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 106959164 106959164 C T SNP TSC22D3 ENST00000315660 human ensembl 70_37 -1 known missense c.337 p.V113M 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC TSGA13 114960 genome.wustl.edu 37 7 130365827 130365827 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 130365827 130365827 A C SNP TSGA13 ENST00000356588 human ensembl 70_37 -1 known missense c.131 p.F44C 0.998 NULL NULL - no_errors TSGA13 HGNC TSPAN1 10103 genome.wustl.edu 37 1 46650192 46650192 + RNA DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 46650192 46650192 G - DEL TSPAN1 ENST00000482143 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN1 HGNC TSPYL5 85453 genome.wustl.edu 37 8 98289174 98289174 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 98289174 98289174 C T SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.899 p.R300H 0.764 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC TTBK1 84630 genome.wustl.edu 37 6 43230635 43230635 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 43230635 43230635 C T SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known silent c.1533 p.R511 1.000 NULL 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 TTBK1 HGNC TTC19 54902 genome.wustl.edu 37 17 15903112 15903112 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 15903112 15903112 G - DEL TTC19 ENST00000261647 human ensembl 70_37 +1 novel frame_shift_del c.313 p.G106fs 0.876 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC TTC21B 79809 genome.wustl.edu 37 2 166799846 166799846 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 166799846 166799846 G A SNP TTC21B ENST00000243344 human ensembl 70_37 -1 known silent c.435 p.H145 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC TTC30A 92104 genome.wustl.edu 37 2 178482897 178482897 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 178482897 178482897 G C SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.533 p.S178C 0.030 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC TTC40 54777 genome.wustl.edu 37 10 134754547 134754547 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 134754547 134754547 G A SNP TTC40 ENST00000368582 human ensembl 70_37 -1 known silent c.324 p.C108 0.016 NULL NULL - no_errors TTC40 HGNC TTLL5 23093 genome.wustl.edu 37 14 76219283 76219283 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 76219283 76219283 G A SNP TTLL5 ENST00000298832 human ensembl 70_37 +1 known missense c.1535 p.R512H 0.999 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC TTN 7273 genome.wustl.edu 37 2 179460337 179460337 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179460337 179460337 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.50040 p.L16680 0.996 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 179471944 179471944 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179471944 179471944 T G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.45681 p.E15227D 0.149 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 179666938 179666938 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179666938 179666938 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.222 p.N74K 1.000 pfam_Ig_I-set,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 TTYH1 57348 genome.wustl.edu 37 19 54932529 54932529 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54932529 54932529 C T SNP TTYH1 ENST00000376531 human ensembl 70_37 +1 known silent c.384 p.H128 0.717 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC TUBB4A 10382 genome.wustl.edu 37 19 6501390 6501390 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6501390 6501390 C T SNP TUBB4A ENST00000264071 human ensembl 70_37 -1 known missense c.185 p.R62K 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC TUBG1 7283 genome.wustl.edu 37 17 40766958 40766958 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40766958 40766958 G C SNP TUBG1 ENST00000251413 human ensembl 70_37 +1 known missense c.1255 p.D419H 1.000 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC TULP2 7288 genome.wustl.edu 37 19 49392834 49392834 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 49392834 49392834 G T SNP TULP2 ENST00000221399 human ensembl 70_37 -1 known nonsense c.569 p.S190* 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC TULP4 56995 genome.wustl.edu 37 6 158923775 158923775 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 158923775 158923775 C T SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known missense c.3080 p.P1027L 0.222 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC TXLNB 167838 genome.wustl.edu 37 6 139609794 139609794 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 139609794 139609794 G T SNP TXLNB ENST00000358430 human ensembl 70_37 -1 known silent c.243 p.G81 0.000 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC TXNDC8 255220 genome.wustl.edu 37 9 113065834 113065834 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 113065834 113065834 T G SNP TXNDC8 ENST00000374511 human ensembl 70_37 -1 known missense c.351 p.K117N 0.009 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC8 HGNC TXNL1 9352 genome.wustl.edu 37 18 54305579 54305579 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 54305579 54305579 C T SNP TXNL1 ENST00000217515 human ensembl 70_37 -1 known missense c.93 p.M31I 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold - no_errors TXNL1 HGNC TYK2 7297 genome.wustl.edu 37 19 10469949 10469949 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10469949 10469949 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.2077 p.G693R 0.991 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC UBE2D1 7321 genome.wustl.edu 37 10 60127703 60127703 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 60127703 60127703 C G SNP UBE2D1 ENST00000373910 human ensembl 70_37 +1 known missense c.325 p.L109V 0.994 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D1 HGNC UBQLN1 29979 genome.wustl.edu 37 9 86297962 86297962 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 86297962 86297962 G A SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known nonsense c.352 p.Q118* 1.000 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC UCMA 221044 genome.wustl.edu 37 10 13275542 13275542 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 13275542 13275542 G C SNP UCMA ENST00000378681 human ensembl 70_37 -1 known silent c.216 p.V72 0.927 NULL NULL - no_errors UCMA HGNC UHRF2 115426 genome.wustl.edu 37 9 6497316 6497316 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 6497316 6497316 A G SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.1723 p.K575E 1.000 pfam_SRA_YDG,smart_SRA_YDG,pfscan_SRA_YDG pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC UNC5CL 222643 genome.wustl.edu 37 6 41000851 41000851 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 41000851 41000851 G A SNP UNC5CL ENST00000244565 human ensembl 70_37 -1 known missense c.721 p.R241C 0.028 NULL pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors UNC5CL HGNC UNC5CL 222643 genome.wustl.edu 37 6 41002620 41002620 + Nonsense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 41002620 41002620 G C SNP UNC5CL ENST00000244565 human ensembl 70_37 -1 known nonsense c.194 p.S65* 0.003 NULL pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors UNC5CL HGNC UNC79 57578 genome.wustl.edu 37 14 94004472 94004472 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 94004472 94004472 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.1260 p.A420 0.073 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC UNC93A 54346 genome.wustl.edu 37 6 167719471 167719471 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 167719471 167719471 C T SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known silent c.909 p.D303 0.003 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC UPF2 26019 genome.wustl.edu 37 10 12056181 12056181 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 12056181 12056181 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.1148 p.R383H 1.000 pfam_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC URB1 9875 genome.wustl.edu 37 21 33692922 33692922 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 33692922 33692922 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known missense c.5513 p.A1838V 0.882 superfamily_ARM-type_fold pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC URI1 8725 genome.wustl.edu 37 19 30505884 30505884 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 30505884 30505884 C A SNP URI1 ENST00000542441 human ensembl 70_37 +1 known missense c.1516 p.P506T 0.998 NULL pfam_Prefoldin_subunit,superfamily_Prefoldin - no_errors URI1 HGNC USH1G 124590 genome.wustl.edu 37 17 72915595 72915595 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 72915595 72915595 G T SNP USH1G ENST00000319642 human ensembl 70_37 -1 known silent c.1336 p.R446 0.970 superfamily_SAM/pointed,smart_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC USH2A 7399 genome.wustl.edu 37 1 215847796 215847796 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 215847796 215847796 A G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.13457 p.V4486A 0.196 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 USH2A 7399 genome.wustl.edu 37 1 215987235 215987235 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 215987235 215987235 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.9582 p.N3194 0.415 superfamily_Fibronectin_type3,smart_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 USP30 84749 genome.wustl.edu 37 12 109505432 109505432 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 109505432 109505432 G A SNP USP30 ENST00000257548 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP30 HGNC USP9X 8239 genome.wustl.edu 37 X 40999952 40999952 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 40999952 40999952 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.698 p.G233E 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC USP9X 8239 genome.wustl.edu 37 X 41089034 41089035 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 41089034 41089035 - A INS USP9X ENST00000324545 human ensembl 70_37 +1 known frame_shift_ins c.7433_7434 p.A2481fs 1.000:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC UTP14A 10813 genome.wustl.edu 37 X 129042055 129042055 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 129042055 129042055 G C SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known missense c.122 p.R41T 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC UTS2B 257313 genome.wustl.edu 37 3 190995868 190995868 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 190995868 190995868 G A SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known silent c.195 p.F65 0.000 NULL NULL - no_errors UTS2D HGNC UXT 8409 genome.wustl.edu 37 X 47511528 47511528 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47511528 47511528 G A SNP UXT ENST00000335890 human ensembl 70_37 -1 known silent c.408 p.L136 1.000 pfam_Prefoldin_subunit,superfamily_Prefoldin pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC VCAN 1462 genome.wustl.edu 37 5 82849201 82849201 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 82849201 82849201 A G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.9512 p.Y3171C 0.986 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VCL 7414 genome.wustl.edu 37 10 75834509 75834510 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 75834509 75834510 - T INS VCL ENST00000211998 human ensembl 70_37 +1 known frame_shift_ins c.631_632 p.V213fs 1.000:1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC VMP1 81671 genome.wustl.edu 37 17 57917481 57917481 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 57917481 57917481 T C SNP VMP1 ENST00000588617 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors VMP1 HGNC VPRBP 9730 genome.wustl.edu 37 3 51452260 51452260 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 51452260 51452260 G C SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known missense c.2308 p.L770V 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC VPS13B 157680 genome.wustl.edu 37 8 100796656 100796656 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 100796656 100796656 G A SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.7968 p.A2656 0.942 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS54 51542 genome.wustl.edu 37 2 64211004 64211004 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 64211004 64211004 G T SNP VPS54 ENST00000272322 human ensembl 70_37 -1 known missense c.130 p.P44T 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC VSTM1 284415 genome.wustl.edu 37 19 54544289 54544289 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54544289 54544289 C T SNP VSTM1 ENST00000338372 human ensembl 70_37 -1 known missense c.637 p.A213T 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC VWA5B1 127731 genome.wustl.edu 37 1 20669102 20669102 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 20669102 20669102 G T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known nonsense c.2311 p.E771* 0.863 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC WASF1 8936 genome.wustl.edu 37 6 110423187 110423187 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 110423187 110423187 G A SNP WASF1 ENST00000359451 human ensembl 70_37 -1 known nonsense c.1126 p.Q376* 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC WASH6P 653440 genome.wustl.edu 37 X 155252379 155252379 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 155252379 155252379 C T SNP WASH6P ENST00000359512 human ensembl 70_37 +1 known silent c.600 p.V200 1.000 NULL pfam_WASH_WASD - no_errors WASH6P HGNC WASL 8976 genome.wustl.edu 37 7 123332484 123332485 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 123332484 123332485 - T INS WASL ENST00000223023 human ensembl 70_37 -1 known frame_shift_ins c.1264_1263 p.V421fs 1.000:1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC WDFY2 115825 genome.wustl.edu 37 13 52158943 52158943 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 52158943 52158943 C T SNP WDFY2 ENST00000298125 human ensembl 70_37 +1 known silent c.120 p.I40 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC WDFY3 23001 genome.wustl.edu 37 4 85710969 85710969 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 85710969 85710969 C T SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known nonsense c.3579 p.W1193* 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDFY4 57705 genome.wustl.edu 37 10 50174698 50174698 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 50174698 50174698 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.8564 p.P2855L 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 WDFY4 HGNC WDR27 253769 genome.wustl.edu 37 6 170065626 170065626 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 170065626 170065626 C T SNP WDR27 ENST00000448612 human ensembl 70_37 -1 known missense c.739 p.D247N 0.006 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 - no_errors WDR27 HGNC WDR3 10885 genome.wustl.edu 37 1 118491107 118491107 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 118491107 118491107 C T SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.1502 p.S501F 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC WDR33 55339 genome.wustl.edu 37 2 128479457 128479457 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 128479457 128479457 C G SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.1624 p.E542Q 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC WDR38 401551 genome.wustl.edu 37 9 127619875 127619875 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 127619875 127619875 G A SNP WDR38 ENST00000373574 human ensembl 70_37 +1 known missense c.911 p.R304H 0.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC WDR64 128025 genome.wustl.edu 37 1 241846798 241846798 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 241846798 241846798 T G SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known missense c.604 p.F202V 0.960 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC WDR66 144406 genome.wustl.edu 37 12 122437841 122437841 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 122437841 122437841 G A SNP WDR66 ENST00000288912 human ensembl 70_37 +1 known missense c.3226 p.V1076I 0.032 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC WDR83OS 51398 genome.wustl.edu 37 19 12780007 12780007 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 12780007 12780007 C T SNP WDR83OS ENST00000596731 human ensembl 70_37 -1 known missense c.91 p.D31N 1.000 pfam_UPF0139 pfam_UPF0139 - no_errors WDR83OS HGNC WDR87 83889 genome.wustl.edu 37 19 38383943 38383943 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38383943 38383943 G A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known silent c.2400 p.L800 0.941 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WDR90 197335 genome.wustl.edu 37 16 712707 712707 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 712707 712707 C T SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel silent c.4180 p.L1394 0.994 superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC WDTC1 23038 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 70_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC WIZ 58525 genome.wustl.edu 37 19 15539200 15539200 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15539200 15539200 G C SNP WIZ ENST00000545156 human ensembl 70_37 -1 known missense c.763 p.P255A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WRNIP1 56897 genome.wustl.edu 37 6 2770393 2770393 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 2770393 2770393 C G SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known missense c.1054 p.L352V 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC XAB2 56949 genome.wustl.edu 37 19 7685819 7685819 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7685819 7685819 C T SNP XAB2 ENST00000358368 human ensembl 70_37 -1 known silent c.1884 p.Q628 1.000 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC XAGE3 170626 genome.wustl.edu 37 X 52893804 52893804 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 52893804 52893804 C A SNP XAGE3 ENST00000346279 human ensembl 70_37 -1 known missense c.313 p.G105C 0.006 pfam_GAGE pfam_GAGE - no_errors XAGE3 HGNC XIST 7503 genome.wustl.edu 37 X 73041425 73041425 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73041425 73041425 T G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC XIST 7503 genome.wustl.edu 37 X 73045990 73045990 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73045990 73045990 C G SNP XIST ENST00000416330 human ensembl 70_37 -1 known rna NULL NULL 0.577 - - - no_errors XIST HGNC XIST 7503 genome.wustl.edu 37 X 73066381 73066381 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73066381 73066381 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC XPOT 11260 genome.wustl.edu 37 12 64813963 64813963 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 64813963 64813963 G A SNP XPOT ENST00000332707 human ensembl 70_37 +1 known silent c.603 p.V201 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC YTHDF3 253943 genome.wustl.edu 37 8 64122560 64122560 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 64122560 64122560 G A SNP YTHDF3 ENST00000339066 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ZBTB43 23099 genome.wustl.edu 37 9 129595499 129595499 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 129595499 129595499 C T SNP ZBTB43 ENST00000373457 human ensembl 70_37 +1 known silent c.711 p.I237 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ZC3H10 84872 genome.wustl.edu 37 12 56515629 56515629 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 56515629 56515629 G A SNP ZC3H10 ENST00000257940 human ensembl 70_37 +1 known missense c.1283 p.R428H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ZC4H2 55906 genome.wustl.edu 37 X 64136735 64136735 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 64136735 64136735 A C SNP ZC4H2 ENST00000488608 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC4H2 HGNC ZC4H2 55906 genome.wustl.edu 37 X 64141715 64141715 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 64141715 64141715 G A SNP ZC4H2 ENST00000374839 human ensembl 70_37 -1 known silent c.207 p.I69 1.000 pfam_Znf-C4H2 pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ZFHX3 463 genome.wustl.edu 37 16 72821213 72821213 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 72821213 72821213 C G SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.10962 p.S3654 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFHX3 463 genome.wustl.edu 37 16 72828826 72828826 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 72828826 72828826 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.7755 p.A2585 0.446 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFP14 57677 genome.wustl.edu 37 19 36851367 36851367 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36851367 36851367 C T SNP ZFP14 ENST00000270001 human ensembl 70_37 -1 known missense c.205 p.V69M 0.965 pfscan_Krueppel-associated_box 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 ZFP14 HGNC ZFPL1 7542 genome.wustl.edu 37 11 64855570 64855570 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 64855570 64855570 G A SNP ZFPL1 ENST00000294258 human ensembl 70_37 +1 known missense c.917 p.R306H 1.000 NULL NULL - no_errors ZFPL1 HGNC ZFR2 23217 genome.wustl.edu 37 19 3823381 3823381 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3823381 3823381 C A SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known missense c.1234 p.A412S 0.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ZFR2 23217 genome.wustl.edu 37 19 3825390 3825390 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3825390 3825390 C T SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known missense c.1051 p.A351T 1.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ZHX3 23051 genome.wustl.edu 37 20 39832662 39832662 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 39832662 39832662 C A SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.895 p.V299L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ZKSCAN2 342357 genome.wustl.edu 37 16 25255116 25255116 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 25255116 25255116 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.1971 p.Q657H 0.992 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ZKSCAN5 23660 genome.wustl.edu 37 7 99123897 99123897 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 99123897 99123897 C T SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known missense c.1234 p.R412W 0.937 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ZMAT1 84460 genome.wustl.edu 37 X 101138741 101138741 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 101138741 101138741 T C SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known missense c.1658 p.E553G 0.999 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ZMYM2 7750 genome.wustl.edu 37 13 20641000 20641000 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 20641000 20641000 A G SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.3142 p.R1048G 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ZNF101 94039 genome.wustl.edu 37 19 19790233 19790233 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19790233 19790233 A G SNP ZNF101 ENST00000318110 human ensembl 70_37 +1 known silent c.435 p.Q145 0.024 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 ZNF101 HGNC ZNF157 7712 genome.wustl.edu 37 X 47272495 47272495 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47272495 47272495 G T SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.1023 p.M341I 0.003 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 ZNF157 HGNC ZNF211 10520 genome.wustl.edu 37 19 58152932 58152932 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58152932 58152932 C T SNP ZNF211 ENST00000240731 human ensembl 70_37 +1 known missense c.1117 p.R373C 0.033 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 ZNF211 HGNC ZNF219 51222 genome.wustl.edu 37 14 21559617 21559617 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21559617 21559617 G C SNP ZNF219 ENST00000360947 human ensembl 70_37 -1 known missense c.1517 p.S506C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept - no_errors ZNF219 HGNC ZNF233 353355 genome.wustl.edu 37 19 44777426 44777426 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 44777426 44777426 A C SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.613 p.N205H 0.019 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 ZNF233 HGNC ZNF260 339324 genome.wustl.edu 37 19 37005778 37005778 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 37005778 37005778 T A SNP ZNF260 ENST00000523638 human ensembl 70_37 -1 known silent c.363 p.P121 0.027 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ZNF300 91975 genome.wustl.edu 37 5 150275565 150275565 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 150275565 150275565 G A SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known silent c.1284 p.T428 0.496 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 ZNF300 HGNC ZNF302 55900 genome.wustl.edu 37 19 35175900 35175900 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35175900 35175900 A T SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known nonsense c.958 p.K320* 0.993 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 ZNF302 HGNC ZNF33A 7581 genome.wustl.edu 37 10 38344302 38344302 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 38344302 38344302 C T SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.1268 p.A423V 0.112 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 ZNF33A HGNC ZNF343 79175 genome.wustl.edu 37 20 2464233 2464233 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 2464233 2464233 C T SNP ZNF343 ENST00000278772 human ensembl 70_37 -1 known silent c.1374 p.T458 0.335 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 ZNF343 HGNC ZNF358 140467 genome.wustl.edu 37 19 7584411 7584411 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7584411 7584411 G A SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known missense c.283 p.D95N 0.022 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ZNF425 155054 genome.wustl.edu 37 7 148802620 148802620 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 148802620 148802620 G T SNP ZNF425 ENST00000378061 human ensembl 70_37 -1 known missense c.343 p.R115S 0.013 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ZNF433 163059 genome.wustl.edu 37 19 12127369 12127369 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 12127369 12127369 C T SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.313 p.E105K 0.000 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 ZNF433 HGNC ZNF441 126068 genome.wustl.edu 37 19 11891821 11891821 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11891821 11891821 T C SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known silent c.1182 p.C394 0.138 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 ZNF441 HGNC ZNF462 58499 genome.wustl.edu 37 9 109701337 109701337 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 109701337 109701337 C T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.6556 p.H2186Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ZNF521 25925 genome.wustl.edu 37 18 22806010 22806010 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 22806010 22806010 T A SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known silent c.1872 p.G624 0.598 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ZNF530 348327 genome.wustl.edu 37 19 58117823 58117823 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58117823 58117823 C T SNP ZNF530 ENST00000332854 human ensembl 70_37 +1 known silent c.930 p.L310 0.000 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 ZNF530 HGNC ZNF530 348327 genome.wustl.edu 37 19 58117826 58117826 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58117826 58117826 T A SNP ZNF530 ENST00000332854 human ensembl 70_37 +1 known silent c.933 p.I311 0.001 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 ZNF530 HGNC ZNF542 147947 genome.wustl.edu 37 19 56889033 56889033 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56889033 56889033 G A SNP ZNF542 ENST00000467807 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF542 HGNC ZNF570 148268 genome.wustl.edu 37 19 37958831 37958831 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 37958831 37958831 G C SNP ZNF570 ENST00000587363 human ensembl 70_37 +1 known silent c.39 p.V13 0.007 NULL NULL - no_errors ZNF570 HGNC ZNF570 148268 genome.wustl.edu 37 19 37961248 37961248 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 37961248 37961248 G A SNP ZNF570 ENST00000586475 human ensembl 70_37 +1 putative missense c.160 p.E54K 0.020 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 ZNF684 127396 genome.wustl.edu 37 1 41012967 41012967 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 41012967 41012967 G A SNP ZNF684 ENST00000372699 human ensembl 70_37 +1 known silent c.972 p.E324 1.000 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 ZNF684 HGNC ZNF697 90874 genome.wustl.edu 37 1 120166704 120166704 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 120166704 120166704 G A SNP ZNF697 ENST00000421812 human ensembl 70_37 -1 known missense c.262 p.R88C 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ZNF761 388561 genome.wustl.edu 37 19 53958029 53958029 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 53958029 53958029 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors ZNF761 HGNC ZNF773 374928 genome.wustl.edu 37 19 58018541 58018541 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58018541 58018541 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.1078 p.E360Q 0.004 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 ZNF773 HGNC ZNF775 285971 genome.wustl.edu 37 7 150094608 150094608 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150094608 150094608 C T SNP ZNF775 ENST00000329630 human ensembl 70_37 +1 known missense c.1039 p.R347C 0.958 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ZNF793 390927 genome.wustl.edu 37 19 38024380 38024380 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38024380 38024380 C G SNP ZNF793 ENST00000587986 human ensembl 70_37 +1 putative missense c.313 p.L105V 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ZNF808 388558 genome.wustl.edu 37 19 53058742 53058742 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 53058742 53058742 G A SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.2573 p.R858H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ZNF814 730051 genome.wustl.edu 37 19 58385022 58385022 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58385022 58385022 C T SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.1736 p.G579E 0.017 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 ZNF814 HGNC ZNF841 284371 genome.wustl.edu 37 19 52568470 52568470 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52568470 52568470 G A SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known missense c.2665 p.R889C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ZNF841 284371 genome.wustl.edu 37 19 52569670 52569670 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52569670 52569670 C T SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known missense c.1465 p.E489K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ZNF865 100507290 genome.wustl.edu 37 19 56125542 56125542 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56125542 56125542 G A SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel silent c.558 p.P186 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ZNF865 100507290 genome.wustl.edu 37 19 56127433 56127433 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56127433 56127433 C T SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel nonsense c.2449 p.R817* 0.894 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ZNRF4 148066 genome.wustl.edu 37 19 5456111 5456111 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5456111 5456111 G A SNP ZNRF4 ENST00000222033 human ensembl 70_37 +1 known silent c.609 p.L203 0.001 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ZNRF4 148066 genome.wustl.edu 37 19 5456482 5456482 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5456482 5456482 G A SNP ZNRF4 ENST00000222033 human ensembl 70_37 +1 known missense c.980 p.C327Y 0.993 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ZP2 7783 genome.wustl.edu 37 16 21218297 21218297 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 21218297 21218297 C G SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.345 p.Q115H 0.970 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ZSCAN1 284312 genome.wustl.edu 37 19 58565041 58565041 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58565041 58565041 G A SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known silent c.849 p.P283 0.001 NULL 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 ZSCAN1 HGNC ZSCAN22 342945 genome.wustl.edu 37 19 58846467 58846467 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58846467 58846467 C T SNP ZSCAN22 ENST00000329665 human ensembl 70_37 +1 known missense c.299 p.A100V 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_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 ZSCAN22 HGNC ZSWIM6 57688 genome.wustl.edu 37 5 60839822 60839822 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 60839822 60839822 G A SNP ZSWIM6 ENST00000252744 human ensembl 70_37 +1 known missense c.3326 p.R1109H 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ZYX 7791 genome.wustl.edu 37 7 143079495 143079495 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 143079495 143079495 G A SNP ZYX ENST00000322764 human ensembl 70_37 +1 known silent c.363 p.P121 0.040 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ZZEF1 23140 genome.wustl.edu 37 17 3919733 3919733 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 3919733 3919733 G T SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known silent c.8029 p.R2677 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC