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 ABCA4 24 genome.wustl.edu 37 1 94466477 94466477 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 94466477 94466477 C G SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.6394 p.E2132Q 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABCC1 4363 genome.wustl.edu 37 16 16130348 16130348 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 16130348 16130348 C T SNP ABCC1 ENST00000399408 human ensembl 70_37 +1 known missense c.697 p.R233C 0.991 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ABHD10 55347 genome.wustl.edu 37 3 111710503 111710503 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 111710503 111710503 G A SNP ABHD10 ENST00000273359 human ensembl 70_37 +1 known missense c.856 p.D286N 1.000 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ADAMTS3 9508 genome.wustl.edu 37 4 73156717 73156717 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 73156717 73156717 C T SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.2786 p.R929H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC AFF3 3899 genome.wustl.edu 37 2 100217938 100217938 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 100217938 100217938 C G SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1405 p.E469Q 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AFF4 27125 genome.wustl.edu 37 5 132232824 132232824 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 132232824 132232824 G C SNP AFF4 ENST00000265343 human ensembl 70_37 -1 known missense c.1498 p.Q500E 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC AGPS 8540 genome.wustl.edu 37 2 178301609 178301609 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 178301609 178301609 C T SNP AGPS ENST00000264167 human ensembl 70_37 +1 known missense c.559 p.H187Y 1.000 superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC AIMP2 7965 genome.wustl.edu 37 7 6057525 6057525 + Silent SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 6057525 6057525 G T SNP AIMP2 ENST00000223029 human ensembl 70_37 +1 known silent c.423 p.L141 0.994 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC AKR1D1 6718 genome.wustl.edu 37 7 137801416 137801416 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 137801416 137801416 G A SNP AKR1D1 ENST00000468877 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AKR1D1 HGNC ALMS1 7840 genome.wustl.edu 37 2 73675141 73675141 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 73675141 73675141 C T SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.1484 p.S495L 0.397 NULL NULL - no_errors ALMS1 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255242 9255242 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 9255242 9255242 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known silent c.1977 p.E659 0.990 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC APOBR 55911 genome.wustl.edu 37 16 28506478 28506478 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 28506478 28506478 G A SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.116 p.R39Q 0.033 NULL NULL - no_errors APOBR HGNC ASAP1 50807 genome.wustl.edu 37 8 131073096 131073096 + Missense_Mutation SNP T T C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 131073096 131073096 T C SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2921 p.K974R 1.000 prints_p67phox pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ASIC2 40 genome.wustl.edu 37 17 31438962 31438962 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 31438962 31438962 C T SNP ASIC2 ENST00000225823 human ensembl 70_37 -1 known missense c.832 p.E278K 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC AURKA 6790 genome.wustl.edu 37 20 54945266 54945266 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 20 54945266 54945266 G A SNP AURKA ENST00000312783 human ensembl 70_37 -1 known missense c.1160 p.S387L 0.975 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 AURKA HGNC BMI1 648 genome.wustl.edu 37 10 22616899 22616899 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 22616899 22616899 G C SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known missense c.337 p.D113H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC BMPR2 659 genome.wustl.edu 37 2 203395559 203395559 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 203395559 203395559 G T SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known missense c.1010 p.R337I 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13606503 13606503 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 13606503 13606503 C G SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.2021 p.R674T 0.026 NULL NULL - no_errors BOD1L1 HGNC C11orf30 56946 genome.wustl.edu 37 11 76255554 76255554 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 76255554 76255554 C G SNP C11orf30 ENST00000334736 human ensembl 70_37 +1 known silent c.2961 p.L987 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC C12orf55 144535 genome.wustl.edu 37 12 97180502 97180502 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 97180502 97180502 C T SNP C12orf55 ENST00000524981 human ensembl 70_37 +1 novel silent c.8505 p.L2835 0.974 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC C5orf22 55322 genome.wustl.edu 37 5 31534505 31534505 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 31534505 31534505 G C SNP C5orf22 ENST00000325366 human ensembl 70_37 +1 known missense c.208 p.D70H 1.000 NULL superfamily_ICAT - no_errors C5orf22 HGNC CA10 56934 genome.wustl.edu 37 17 50235158 50235158 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 50235158 50235158 C T SNP CA10 ENST00000573294 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CA10 HGNC CACNG7 59284 genome.wustl.edu 37 19 54445319 54445319 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 54445319 54445319 C T SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known silent c.600 p.F200 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC CD1D 912 genome.wustl.edu 37 1 158151385 158151385 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 158151385 158151385 C T SNP CD1D ENST00000368171 human ensembl 70_37 +1 known silent c.202 p.L68 0.025 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1D HGNC CD99 4267 genome.wustl.edu 37 X 2651454 2651454 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 2651454 2651454 G A SNP CD99 ENST00000482405 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CD99 HGNC CECR2 27443 genome.wustl.edu 37 22 18028884 18028884 + Missense_Mutation SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 18028884 18028884 A G SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.3841 p.N1281D 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CELA3A 10136 genome.wustl.edu 37 1 22329579 22329579 + Nonsense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 22329579 22329579 C T SNP CELA3A ENST00000290122 human ensembl 70_37 +1 known nonsense c.127 p.Q43* 1.000 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 CELA3A HGNC CEP89 84902 genome.wustl.edu 37 19 33370085 33370085 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 33370085 33370085 G A SNP CEP89 ENST00000305768 human ensembl 70_37 -1 known missense c.2335 p.H779Y 0.001 NULL NULL - no_errors CEP89 HGNC CNTLN 54875 genome.wustl.edu 37 9 17273770 17273770 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 17273770 17273770 G C SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.889 p.E297Q 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC COX6A1 1337 genome.wustl.edu 37 12 120875972 120875972 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 120875972 120875972 C T SNP COX6A1 ENST00000229379 human ensembl 70_37 +1 known missense c.43 p.R15W 0.045 pirsf_Cyt_c_oxidase_su6a pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a - no_errors COX6A1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3263717 3263717 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 3263717 3263717 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.2101 p.P701S 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 CSMD1 64478 genome.wustl.edu 37 8 3267035 3267035 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 3267035 3267035 C G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.1657 p.E553Q 0.997 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 DAGLA 747 genome.wustl.edu 37 11 61504725 61504725 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 61504725 61504725 C G SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known silent c.1443 p.L481 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC DAPK2 23604 genome.wustl.edu 37 15 64217033 64217033 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 64217033 64217033 G C SNP DAPK2 ENST00000261891 human ensembl 70_37 -1 known silent c.840 p.L280 0.529 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_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,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 DAPK2 HGNC DCC 1630 genome.wustl.edu 37 18 50705389 50705389 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 50705389 50705389 G A SNP DCC ENST00000442544 human ensembl 70_37 +1 known silent c.1476 p.L492 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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 DCC HGNC DCDC5 100506627 genome.wustl.edu 37 11 30937082 30937082 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 30937082 30937082 C T SNP DCDC5 ENST00000339794 human ensembl 70_37 -1 known missense c.866 p.R289H 0.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC DDR2 4921 genome.wustl.edu 37 1 162740113 162740113 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 162740113 162740113 G A SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known missense c.1315 p.D439N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC DEPDC5 9681 genome.wustl.edu 37 22 32193604 32193604 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 32193604 32193604 G C SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known missense c.786 p.E262D 1.000 pfam_DUF3608 pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC DGKB 1607 genome.wustl.edu 37 7 14216524 14216524 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 14216524 14216524 C T SNP DGKB ENST00000258767 human ensembl 70_37 -1 known silent c.2247 p.R749 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,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC DHX30 22907 genome.wustl.edu 37 3 47884655 47884655 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 47884655 47884655 C G SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known silent c.849 p.L283 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC DICER1 23405 genome.wustl.edu 37 14 95570075 95570075 + Nonsense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 95570075 95570075 G A SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known nonsense c.3658 p.Q1220* 1.000 NULL pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC DIP2B 57609 genome.wustl.edu 37 12 51065095 51065095 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 51065095 51065095 C T SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.554 p.S185F 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC DIS3 22894 genome.wustl.edu 37 13 73345042 73345042 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 13 73345042 73345042 C T SNP DIS3 ENST00000377767 human ensembl 70_37 -1 known silent c.1755 p.K585 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC DLEU2 8847 genome.wustl.edu 37 13 50619281 50619281 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 13 50619281 50619281 G A SNP DLEU2 ENST00000416253 human ensembl 70_37 -1 known rna NULL NULL 0.168 - - - no_errors DLEU2 HGNC DNAH2 146754 genome.wustl.edu 37 17 7679425 7679425 + Missense_Mutation SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 7679425 7679425 C A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.4905 p.F1635L 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 DNAH5 1767 genome.wustl.edu 37 5 13717460 13717460 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 13717460 13717460 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known silent c.12669 p.F4223 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAJB14 79982 genome.wustl.edu 37 4 100844268 100844268 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 100844268 100844268 G A SNP DNAJB14 ENST00000442697 human ensembl 70_37 -1 known missense c.380 p.A127V 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB14 HGNC DNAJC13 23317 genome.wustl.edu 37 3 132172164 132172164 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 132172164 132172164 G C SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.560 p.R187T 1.000 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC DNAJC16 23341 genome.wustl.edu 37 1 15855639 15855639 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 15855639 15855639 G C SNP DNAJC16 ENST00000375847 human ensembl 70_37 +1 known missense c.39 p.L13F 1.000 superfamily_DnaJ_N pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC16 HGNC DPYSL5 56896 genome.wustl.edu 37 2 27165544 27165544 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 27165544 27165544 G A SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.1366 p.E456K 0.999 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC EBF2 64641 genome.wustl.edu 37 8 25897612 25897612 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 25897612 25897612 G A SNP EBF2 ENST00000520164 human ensembl 70_37 -1 known silent c.414 p.I138 0.980 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC EFTUD1 79631 genome.wustl.edu 37 15 82443950 82443950 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 82443950 82443950 G A SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known missense c.2845 p.P949S 0.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC EHD3 30845 genome.wustl.edu 37 2 31483537 31483537 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 31483537 31483537 G A SNP EHD3 ENST00000322054 human ensembl 70_37 +1 known missense c.664 p.D222N 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD3 HGNC ELL3 80237 genome.wustl.edu 37 15 44066430 44066430 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 44066430 44066430 C T SNP ELL3 ENST00000319359 human ensembl 70_37 -1 known missense c.988 p.E330K 0.921 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC EME2 197342 genome.wustl.edu 37 16 1825361 1825361 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 1825361 1825361 G A SNP EME2 ENST00000307394 human ensembl 70_37 +1 known silent c.747 p.P249 0.000 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC EML5 161436 genome.wustl.edu 37 14 89181361 89181361 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 89181361 89181361 G A SNP EML5 ENST00000554922 human ensembl 70_37 -1 known missense c.1366 p.H456Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,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 EML5 HGNC ENPP3 5169 genome.wustl.edu 37 6 132004303 132004303 + Splice_Site SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 132004303 132004303 G T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known splice_site c.1120+1 e12+1 1.000 - - - no_errors ENPP3 HGNC ENSG00000205233 0 genome.wustl.edu 37 7 102319054 102319054 + Nonsense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 102319054 102319054 G A SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known nonsense c.250 p.Q84* 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000223063 0 genome.wustl.edu 37 6 35668872 35668872 + RNA DEL G G - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 35668872 35668872 G - DEL ENSG00000223063 ENST00000411131 human ensembl 70_37 -1 novel rna NULL NULL 0.063 - - - no_errors AL157823.1 Clone_based_ensembl_gene ENSG00000224957 0 genome.wustl.edu 37 3 791918 791918 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 791918 791918 C A SNP ENSG00000224957 ENST00000420823 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors AC090044.1 Clone_based_vega_gene ENSG00000232783 0 genome.wustl.edu 37 3 197838311 197838311 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 197838311 197838311 C A SNP ENSG00000232783 ENST00000419104 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000258793 0 genome.wustl.edu 37 14 96734718 96734718 + RNA SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 96734718 96734718 C G SNP ENSG00000258793 ENST00000553638 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-404P21.3 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102297176 102297178 + RNA DEL GCT GCT - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 102297176 102297178 GCT - DEL ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.999:1.000:1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000260038 0 genome.wustl.edu 37 16 57282269 57282271 + RNA DEL AGG AGG - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 57282269 57282271 AGG - DEL ENSG00000260038 ENST00000562409 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000:0.004 - - - no_errors RP11-407G23.4 Clone_based_vega_gene ENSG00000262151 0 genome.wustl.edu 37 16 10971118 10971118 + RNA SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 10971118 10971118 G T SNP ENSG00000262151 ENST00000573071 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-876N24.2 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41569751 41569751 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 41569751 41569751 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4742 p.S1581L 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 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 EPB41L3 23136 genome.wustl.edu 37 18 5397314 5397314 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 5397314 5397314 G A SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known missense c.2584 p.R862C 0.947 pirsf_Band_41_protein 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 EPB41L3 HGNC ERCC4 2072 genome.wustl.edu 37 16 14029051 14029051 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 14029051 14029051 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known missense c.1262 p.R421K 0.998 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ETV4 2118 genome.wustl.edu 37 17 41606046 41606046 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 41606046 41606046 G A SNP ETV4 ENST00000319349 human ensembl 70_37 -1 known silent c.1296 p.F432 1.000 NULL pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV4 HGNC EXOC4 60412 genome.wustl.edu 37 7 133502139 133502139 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 133502139 133502139 G A SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known missense c.1576 p.E526K 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC EXOSC3 51010 genome.wustl.edu 37 9 37780697 37780697 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 37780697 37780697 G C SNP EXOSC3 ENST00000327304 human ensembl 70_37 -1 known missense c.807 p.F269L 0.997 NULL NULL - no_errors EXOSC3 HGNC EXOSC5 56915 genome.wustl.edu 37 19 41903118 41903118 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 41903118 41903118 G A SNP EXOSC5 ENST00000221233 human ensembl 70_37 -1 known missense c.116 p.S39L 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC5 HGNC FAM135B 51059 genome.wustl.edu 37 8 139190862 139190862 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 139190862 139190862 C G SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.945 p.M315I 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FBN2 2201 genome.wustl.edu 37 5 127613633 127613633 + Silent SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 127613633 127613633 G T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known silent c.7410 p.G2470 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FBRSL1 57666 genome.wustl.edu 37 12 133086362 133086362 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 133086362 133086362 C T SNP FBRSL1 ENST00000542061 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors FBRSL1 HGNC FBXO22 26263 genome.wustl.edu 37 15 76209576 76209576 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 76209576 76209576 C G SNP FBXO22 ENST00000308275 human ensembl 70_37 +1 known missense c.469 p.P157A 1.000 NULL pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO22 HGNC FIG4 9896 genome.wustl.edu 37 6 110146303 110146303 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 110146303 110146303 G A SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known silent c.2559 p.S853 0.327 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC FLRT1 23769 genome.wustl.edu 37 11 63884108 63884108 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 63884108 63884108 C G SNP FLRT1 ENST00000246841 human ensembl 70_37 +1 known missense c.369 p.I123M 0.979 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC FLYWCH1 84256 genome.wustl.edu 37 16 2986312 2986312 + RNA SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 2986312 2986312 C G SNP FLYWCH1 ENST00000570752 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FLYWCH1 HGNC FMO2 2327 genome.wustl.edu 37 1 171173052 171173052 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 171173052 171173052 G A SNP FMO2 ENST00000209929 human ensembl 70_37 +1 known missense c.676 p.E226K 0.953 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC GAS7 8522 genome.wustl.edu 37 17 9850223 9850223 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 9850223 9850223 G A SNP GAS7 ENST00000432992 human ensembl 70_37 -1 known silent c.603 p.C201 0.111 pfscan_FCH pfam_FCH,pfam_WW_Rsp5_WWP,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_FCH,pfscan_FCH,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP - no_errors GAS7 HGNC GATSL2 729438 genome.wustl.edu 37 7 74824208 74824208 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 74824208 74824208 G C SNP GATSL2 ENST00000426327 human ensembl 70_37 -1 known missense c.159 p.I53M 1.000 NULL NULL - no_errors GATSL2 HGNC GOLGA8O 728047 genome.wustl.edu 37 15 32738028 32738028 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 32738028 32738028 G A SNP GOLGA8O ENST00000509311 human ensembl 70_37 -1 novel silent c.1440 p.F480 1.000 NULL NULL - no_errors GOLGA8O HGNC GREM2 64388 genome.wustl.edu 37 1 240656728 240656728 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 240656728 240656728 C T SNP GREM2 ENST00000318160 human ensembl 70_37 -1 known silent c.48 p.V16 0.993 pirsf_Gremlin_precursor pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27519901 27519901 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 27519901 27519901 C G SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.1202 p.R401T 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC HERC6 55008 genome.wustl.edu 37 4 89363478 89363478 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 89363478 89363478 C T SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known missense c.2935 p.H979Y 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC HLA-A 3105 genome.wustl.edu 37 6 29911954 29911954 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 29911954 29911954 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known silent c.675 p.L225 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HMGN5 79366 genome.wustl.edu 37 X 80370360 80370360 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 80370360 80370360 C T SNP HMGN5 ENST00000358130 human ensembl 70_37 -1 known missense c.637 p.D213N 0.007 NULL pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC HNRNPR 10236 genome.wustl.edu 37 1 23640126 23640126 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 23640126 23640126 C T SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.1096 p.E366K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC HOOK2 29911 genome.wustl.edu 37 19 12875631 12875631 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 12875631 12875631 G A SNP HOOK2 ENST00000397668 human ensembl 70_37 -1 known silent c.1824 p.R608 0.489 pfam_HOOK pfam_HOOK,superfamily_UBA-like - no_errors HOOK2 HGNC ILVBL 10994 genome.wustl.edu 37 19 15226402 15226402 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 15226402 15226402 G A SNP ILVBL ENST00000263383 human ensembl 70_37 -1 known silent c.1695 p.N565 0.982 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC IMPG2 50939 genome.wustl.edu 37 3 100994515 100994515 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 100994515 100994515 C G SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.658 p.E220Q 0.753 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC INHBE 83729 genome.wustl.edu 37 12 57850121 57850121 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 57850121 57850121 G A SNP INHBE ENST00000266646 human ensembl 70_37 +1 known silent c.543 p.E181 0.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC INO80B 83444 genome.wustl.edu 37 2 74684521 74684521 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 74684521 74684521 G A SNP INO80B ENST00000452361 human ensembl 70_37 +1 known missense c.601 p.E201K 0.926 NULL pfam_PAPA1,pfam_Znf_HIT - no_errors INO80B HGNC INSIG1 3638 genome.wustl.edu 37 7 155095546 155095546 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 155095546 155095546 C T SNP INSIG1 ENST00000344756 human ensembl 70_37 +1 known silent c.360 p.F120 0.000 NULL pfam_INSIG_fam - no_errors INSIG1 HGNC IRF1 3659 genome.wustl.edu 37 5 131825132 131825132 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 131825132 131825132 C G SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known missense c.39 p.E13D 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ITIH2 3698 genome.wustl.edu 37 10 7791170 7791170 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 7791170 7791170 G A SNP ITIH2 ENST00000358415 human ensembl 70_37 +1 known missense c.2714 p.R905K 0.998 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ITPR1 3708 genome.wustl.edu 37 3 4856756 4856756 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 4856756 4856756 G C SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.7676 p.R2559T 0.997 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC JHDM1D 80853 genome.wustl.edu 37 7 139791674 139791674 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 139791674 139791674 G A SNP JHDM1D ENST00000397560 human ensembl 70_37 -1 known silent c.2661 p.F887 0.975 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC KCP 375616 genome.wustl.edu 37 7 128526780 128526780 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 128526780 128526780 G C SNP KCP ENST00000297801 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors KCP HGNC KIAA0195 9772 genome.wustl.edu 37 17 73481598 73481598 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 73481598 73481598 C T SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known silent c.114 p.L38 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC KIAA0195 9772 genome.wustl.edu 37 17 73482023 73482023 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 73482023 73482023 C T SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known silent c.216 p.L72 0.940 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC KIAA1804 84451 genome.wustl.edu 37 1 233497990 233497990 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 233497990 233497990 G C SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known missense c.1503 p.K501N 0.997 pirsf_MAPKKK9/10/11 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 KLHL4 56062 genome.wustl.edu 37 X 86890703 86890703 + Missense_Mutation SNP T T A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 86890703 86890703 T A SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.1853 p.F618Y 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC KRTAP4-6 81871 genome.wustl.edu 37 17 39296450 39296450 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 39296450 39296450 G A SNP KRTAP4-6 ENST00000345847 human ensembl 70_37 -1 known missense c.290 p.S97F 0.001 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC LAMB4 22798 genome.wustl.edu 37 7 107706884 107706884 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 107706884 107706884 C T SNP LAMB4 ENST00000205386 human ensembl 70_37 -1 known missense c.2608 p.E870K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC LILRA3 11026 genome.wustl.edu 37 19 54803494 54803494 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 54803494 54803494 G T SNP LILRA3 ENST00000251390 human ensembl 70_37 -1 known missense c.330 p.S110R 0.224 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC LIMD1-AS1 644714 genome.wustl.edu 37 3 45730581 45730581 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 45730581 45730581 C T SNP LIMD1-AS1 ENST00000429798 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LIMD1-AS1 HGNC LMOD2 442721 genome.wustl.edu 37 7 123303077 123303077 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 123303077 123303077 G C SNP LMOD2 ENST00000458573 human ensembl 70_37 +1 known missense c.1437 p.K479N 1.000 NULL pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC LOC100996516 100996516 genome.wustl.edu 37 1 150523265 150523265 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 150523265 150523265 G A SNP LOC100996516 ENST00000538795 human ensembl 70_37 +1 known missense c.194 p.R65H 0.009 NULL NULL - no_errors AL356356.1 Clone_based_ensembl_gene LOC101060483 101060483 genome.wustl.edu 37 14 19855145 19855145 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 19855145 19855145 C T SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene LONP2 83752 genome.wustl.edu 37 16 48385529 48385529 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 48385529 48385529 G C SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known missense c.2375 p.R792T 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC LRRC19 64922 genome.wustl.edu 37 9 26995626 26995626 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 26995626 26995626 C T SNP LRRC19 ENST00000380055 human ensembl 70_37 -1 known missense c.1006 p.E336K 0.904 NULL smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC LRRFIP1 9208 genome.wustl.edu 37 2 238662113 238662113 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 238662113 238662113 G C SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known missense c.645 p.E215D 0.998 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC MAGEA6 4105 genome.wustl.edu 37 X 151869985 151869985 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 151869985 151869985 G A SNP MAGEA6 ENST00000329342 human ensembl 70_37 +1 known silent c.675 p.L225 0.046 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC MAP3K5 4217 genome.wustl.edu 37 6 136960726 136960726 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 136960726 136960726 G A SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.1889 p.S630F 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC MAPK8IP1 9479 genome.wustl.edu 37 11 45919684 45919684 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 45919684 45919684 G A SNP MAPK8IP1 ENST00000241014 human ensembl 70_37 +1 known silent c.150 p.S50 0.076 NULL pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC MAPKBP1 23005 genome.wustl.edu 37 15 42067565 42067565 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 42067565 42067565 G A SNP MAPKBP1 ENST00000456763 human ensembl 70_37 +1 known missense c.92 p.R31Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC MC3R 4159 genome.wustl.edu 37 20 54823970 54823970 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 20 54823970 54823970 C T SNP MC3R ENST00000243911 human ensembl 70_37 +1 known missense c.71 p.P24L 0.084 prints_Mcort_3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC MEIS3P2 257468 genome.wustl.edu 37 17 20493306 20493306 + RNA SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 20493306 20493306 G T SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors MEIS3P2 HGNC MID2 11043 genome.wustl.edu 37 X 107084146 107084146 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 107084146 107084146 C G SNP MID2 ENST00000262843 human ensembl 70_37 +1 known missense c.251 p.S84W 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC MLH3 27030 genome.wustl.edu 37 14 75515090 75515090 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 75515090 75515090 C T SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known silent c.1269 p.Q423 0.974 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC MRPL40 64976 genome.wustl.edu 37 22 19423532 19423532 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 19423532 19423532 G A SNP MRPL40 ENST00000471259 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MRPL40 HGNC MS4A6A 64231 genome.wustl.edu 37 11 59940572 59940572 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 59940572 59940572 G T SNP MS4A6A ENST00000323961 human ensembl 70_37 -1 known missense c.580 p.L194M 0.000 pfam_CD20-like pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13288 13288 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db MT 13288 13288 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.952 p.G318S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUC16 94025 genome.wustl.edu 37 19 9082960 9082960 + Nonsense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 9082960 9082960 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known nonsense c.8855 p.S2952* 0.010 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC4 4585 genome.wustl.edu 37 3 195506863 195506863 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 195506863 195506863 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11588 p.S3863F 0.947 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYBPC1 4604 genome.wustl.edu 37 12 102025848 102025848 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 102025848 102025848 G A SNP MYBPC1 ENST00000361466 human ensembl 70_37 +1 known missense c.488 p.G163E 1.000 pfam_Ig_I-set,smart_Ig_sub 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 MYBPC1 HGNC NAV2 89797 genome.wustl.edu 37 11 20005703 20005703 + Missense_Mutation SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 20005703 20005703 C A SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.2747 p.T916N 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC NEB 4703 genome.wustl.edu 37 2 152432303 152432303 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 152432303 152432303 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.16919 p.R5640T 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,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEDD4L 23327 genome.wustl.edu 37 18 56033348 56033348 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 56033348 56033348 G C SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known missense c.1951 p.E651Q 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom - no_errors NEDD4L HGNC NFATC2 4773 genome.wustl.edu 37 20 50139763 50139763 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 20 50139763 50139763 G A SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known silent c.1017 p.A339 0.998 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 NFATC2 HGNC NID1 4811 genome.wustl.edu 37 1 236208917 236208917 + Nonsense_Mutation SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 236208917 236208917 C A SNP NID1 ENST00000264187 human ensembl 70_37 -1 known nonsense c.592 p.E198* 1.000 pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC NIF3L1 60491 genome.wustl.edu 37 2 201761901 201761901 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 201761901 201761901 C T SNP NIF3L1 ENST00000409020 human ensembl 70_37 +1 known missense c.829 p.H277Y 1.000 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC NLGN3 54413 genome.wustl.edu 37 X 70390335 70390335 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 70390335 70390335 G A SNP NLGN3 ENST00000476589 human ensembl 70_37 +1 known rna NULL NULL 0.402 - - - no_errors NLGN3 HGNC NLRP14 338323 genome.wustl.edu 37 11 7079068 7079068 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 7079068 7079068 G C SNP NLRP14 ENST00000299481 human ensembl 70_37 +1 known missense c.2452 p.E818Q 0.192 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC NOP2 4839 genome.wustl.edu 37 12 6666539 6666539 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 6666539 6666539 C T SNP NOP2 ENST00000322166 human ensembl 70_37 -1 known missense c.2059 p.E687K 0.000 pfam_P120R pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC NXF1 10482 genome.wustl.edu 37 11 62571442 62571442 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 62571442 62571442 C G SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.37 p.D13H 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC OBSL1 23363 genome.wustl.edu 37 2 220418361 220418361 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 220418361 220418361 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.4924 p.E1642K 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OR13C4 138804 genome.wustl.edu 37 9 107289124 107289124 + Missense_Mutation SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 107289124 107289124 A G SNP OR13C4 ENST00000277216 human ensembl 70_37 -1 known missense c.367 p.Y123H 0.894 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 OR13C4 HGNC OR4K1 79544 genome.wustl.edu 37 14 20404322 20404322 + Missense_Mutation SNP T T C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 20404322 20404322 T C SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known missense c.497 p.L166P 0.192 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC OR6K3 391114 genome.wustl.edu 37 1 158687490 158687490 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 158687490 158687490 C T SNP OR6K3 ENST00000368146 human ensembl 70_37 -1 known missense c.464 p.R155Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC OR8I2 120586 genome.wustl.edu 37 11 55861336 55861336 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 55861336 55861336 G T SNP OR8I2 ENST00000302124 human ensembl 70_37 +1 known missense c.553 p.A185S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC PBRM1 55193 genome.wustl.edu 37 3 52668775 52668775 + Frame_Shift_Del DEL C C - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 52668775 52668775 C - DEL PBRM1 ENST00000296302 human ensembl 70_37 -1 known frame_shift_del c.1144 p.V382fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC PCDHB4 56131 genome.wustl.edu 37 5 140502130 140502130 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 140502130 140502130 C G SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known missense c.550 p.H184D 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 PCDHB4 HGNC PDILT 204474 genome.wustl.edu 37 16 20410556 20410556 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 20410556 20410556 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.67 p.E23K 0.131 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC PFDN2 5202 genome.wustl.edu 37 1 161072116 161072116 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 161072116 161072116 G T SNP PFDN2 ENST00000368010 human ensembl 70_37 -1 known missense c.125 p.S42Y 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN2 HGNC PHRF1 57661 genome.wustl.edu 37 11 605255 605255 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 605255 605255 C G SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.1289 p.S430C 0.922 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 PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PJA2 9867 genome.wustl.edu 37 5 108704312 108704312 + Silent SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 108704312 108704312 A G SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known silent c.1419 p.S473 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC PLS3 5358 genome.wustl.edu 37 X 114880847 114880847 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 114880847 114880847 G A SNP PLS3 ENST00000355899 human ensembl 70_37 +1 known silent c.1503 p.L501 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94543544 94543544 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 94543544 94543544 G T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.797 p.R266L 0.999 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC PMF1 11243 genome.wustl.edu 37 1 156209491 156209491 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 156209491 156209491 G A SNP PMF1 ENST00000497069 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMF1 HGNC POC1B 282809 genome.wustl.edu 37 12 89890968 89890968 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 89890968 89890968 C T SNP POC1B ENST00000313546 human ensembl 70_37 -1 known silent c.252 p.V84 0.993 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC PPFIA2 8499 genome.wustl.edu 37 12 81746991 81746991 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 81746991 81746991 G A SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known missense c.1901 p.S634L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC PPL 5493 genome.wustl.edu 37 16 4935649 4935649 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 4935649 4935649 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.3007 p.D1003H 0.997 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PRPF4 9128 genome.wustl.edu 37 9 116045409 116045409 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 116045409 116045409 C T SNP PRPF4 ENST00000488937 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors PRPF4 HGNC PTH2R 5746 genome.wustl.edu 37 2 209224740 209224740 + RNA SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 209224740 209224740 C G SNP PTH2R ENST00000413482 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PTH2R HGNC RAB23 51715 genome.wustl.edu 37 6 57054534 57054534 + RNA SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 57054534 57054534 A G SNP RAB23 ENST00000344445 human ensembl 70_37 -1 known rna NULL NULL 0.039 - - - no_errors RAB23 HGNC RABL2B 11158 genome.wustl.edu 37 22 51208152 51208152 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 51208152 51208152 G A SNP RABL2B ENST00000465063 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC RAPGEF2 9693 genome.wustl.edu 37 4 160262865 160262865 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 160262865 160262865 G A SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.2201 p.R734H 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC RBFOX1 54715 genome.wustl.edu 37 16 7760730 7760730 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 7760730 7760730 C T SNP RBFOX1 ENST00000311745 human ensembl 70_37 +1 known missense c.1240 p.R414C 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC RBMX2 51634 genome.wustl.edu 37 X 129546420 129546420 + Silent SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 129546420 129546420 C A SNP RBMX2 ENST00000305536 human ensembl 70_37 +1 known silent c.567 p.P189 0.277 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC RBMXL3 139804 genome.wustl.edu 37 X 114424925 114424925 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 114424925 114424925 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.921 p.Y307 0.180 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC RCOR1 23186 genome.wustl.edu 37 14 103180763 103180763 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 103180763 103180763 C T SNP RCOR1 ENST00000262241 human ensembl 70_37 +1 known missense c.862 p.P288S 0.997 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom - no_errors RCOR1 HGNC RIMS1 22999 genome.wustl.edu 37 6 72984074 72984074 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 72984074 72984074 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.3421 p.D1141N 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC RIT1 6016 genome.wustl.edu 37 1 155874548 155874548 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 155874548 155874548 G C SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.211 p.L71V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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,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 RIT1 HGNC RNPC3 55599 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 70_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC RPL9 6133 genome.wustl.edu 37 4 39458080 39458080 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 39458080 39458080 C T SNP RPL9 ENST00000295955 human ensembl 70_37 -1 known missense c.337 p.E113K 1.000 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 - no_errors RPL9 HGNC RTN4RL2 349667 genome.wustl.edu 37 11 57235245 57235245 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 57235245 57235245 C G SNP RTN4RL2 ENST00000335099 human ensembl 70_37 +1 known silent c.195 p.L65 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC SBSPON 157869 genome.wustl.edu 37 8 73979488 73979488 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 73979488 73979488 C A SNP SBSPON ENST00000519697 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SBSPON HGNC SDHB 6390 genome.wustl.edu 37 1 17371366 17371366 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 17371366 17371366 C G SNP SDHB ENST00000375499 human ensembl 70_37 -1 known missense c.90 p.Q30H 1.000 NULL superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC SEC24C 9632 genome.wustl.edu 37 10 75527640 75527640 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 75527640 75527640 G C SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known missense c.2056 p.E686Q 1.000 pfam_Sec23/24_trunk_dom 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 SEC24C HGNC SENP1 29843 genome.wustl.edu 37 12 48457495 48457495 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 48457495 48457495 C T SNP SENP1 ENST00000004980 human ensembl 70_37 -1 known missense c.1405 p.E469K 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC SENP8 123228 genome.wustl.edu 37 15 72432489 72432489 + Silent SNP T T C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 72432489 72432489 T C SNP SENP8 ENST00000340912 human ensembl 70_37 +1 known silent c.525 p.C175 0.985 pfam_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP8 HGNC SERAC1 84947 genome.wustl.edu 37 6 158538838 158538838 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 158538838 158538838 C G SNP SERAC1 ENST00000367104 human ensembl 70_37 -1 known missense c.1324 p.D442H 0.007 pfam_PGAP1-like pfam_PGAP1-like,superfamily_ARM-type_fold - no_errors SERAC1 HGNC SERPINA10 51156 genome.wustl.edu 37 14 94754777 94754777 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 94754777 94754777 C G SNP SERPINA10 ENST00000261994 human ensembl 70_37 -1 known missense c.838 p.D280H 0.983 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC SHANK2 22941 genome.wustl.edu 37 11 70332901 70332901 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 70332901 70332901 G A SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known missense c.3500 p.P1167L 0.997 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 SIGLECL1 284369 genome.wustl.edu 37 19 51767223 51767223 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 51767223 51767223 C T SNP SIGLECL1 ENST00000593968 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SIGLECL1 HGNC SLC17A8 246213 genome.wustl.edu 37 12 100813787 100813787 + Silent SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 100813787 100813787 G T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.1620 p.A540 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC SLC25A2 83884 genome.wustl.edu 37 5 140683187 140683187 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 140683187 140683187 G A SNP SLC25A2 ENST00000239451 human ensembl 70_37 -1 known silent c.246 p.F82 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 SLC25A2 HGNC SLC35A3 23443 genome.wustl.edu 37 1 100488414 100488414 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 100488414 100488414 C A SNP SLC35A3 ENST00000370156 human ensembl 70_37 +1 known rna NULL NULL 0.055 - - - no_errors SLC35A3 HGNC SLC6A20 54716 genome.wustl.edu 37 3 45812709 45812709 + Missense_Mutation SNP T T G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 45812709 45812709 T G SNP SLC6A20 ENST00000358525 human ensembl 70_37 -1 known missense c.935 p.K312T 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_orphan - no_errors SLC6A20 HGNC SLIT1 6585 genome.wustl.edu 37 10 98773558 98773558 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 98773558 98773558 G C SNP SLIT1 ENST00000266058 human ensembl 70_37 -1 known missense c.3143 p.S1048C 0.985 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,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 SLIT1 HGNC SLIT3 6586 genome.wustl.edu 37 5 168176634 168176634 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 168176634 168176634 G C SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.1980 p.L660 0.989 NULL pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,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_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC SNRNP200 23020 genome.wustl.edu 37 2 96944427 96944427 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 96944427 96944427 C T SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known silent c.5346 p.S1782 0.985 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC SNRNP48 154007 genome.wustl.edu 37 6 7590611 7590611 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 7590611 7590611 G C SNP SNRNP48 ENST00000342415 human ensembl 70_37 +1 known missense c.121 p.D41H 0.993 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC SOCS4 122809 genome.wustl.edu 37 14 55509864 55509864 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55509864 55509864 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known silent c.105 p.K35 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC SOCS4 122809 genome.wustl.edu 37 14 55509907 55509907 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55509907 55509907 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.148 p.E50K 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC SOCS4 122809 genome.wustl.edu 37 14 55509925 55509925 + Nonsense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55509925 55509925 G T SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known nonsense c.166 p.E56* 0.033 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC SOCS4 122809 genome.wustl.edu 37 14 55511068 55511068 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55511068 55511068 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.1309 p.E437K 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC SOX5 6660 genome.wustl.edu 37 12 24102511 24102511 + Nonsense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 24102511 24102511 G A SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known nonsense c.25 p.Q9* 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC SPATA1 100505741 genome.wustl.edu 37 1 85018772 85018772 + RNA DEL A A - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 85018772 85018772 A - DEL SPATA1 ENST00000460286 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC SPEF2 79925 genome.wustl.edu 37 5 35814619 35814619 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 35814619 35814619 G C SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.5433 p.E1811D 0.600 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC SPP1 6696 genome.wustl.edu 37 4 88902911 88902911 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 88902911 88902911 G A SNP SPP1 ENST00000395080 human ensembl 70_37 +1 known silent c.501 p.L167 0.375 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC STEAP4 79689 genome.wustl.edu 37 7 87912107 87912107 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 87912107 87912107 C T SNP STEAP4 ENST00000380079 human ensembl 70_37 -1 known missense c.833 p.R278Q 0.997 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420 - no_errors STEAP4 HGNC STX1B 112755 genome.wustl.edu 37 16 31008859 31008859 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 31008859 31008859 G C SNP STX1B ENST00000215095 human ensembl 70_37 -1 known missense c.318 p.N106K 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 STX1B HGNC SYNPO2 171024 genome.wustl.edu 37 4 119952562 119952562 + Frame_Shift_Del DEL A A - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 119952562 119952562 A - DEL SYNPO2 ENST00000307142 human ensembl 70_37 +1 known frame_shift_del c.2632 p.R879fs 0.999 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC TAPBP 6892 genome.wustl.edu 37 6 33281142 33281142 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 33281142 33281142 G A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known silent c.321 p.S107 0.018 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC TEP1 7011 genome.wustl.edu 37 14 20849739 20849739 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 20849739 20849739 C G SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.4531 p.E1511Q 0.420 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 TIMM17B 10245 genome.wustl.edu 37 X 48750899 48750899 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 48750899 48750899 G C SNP TIMM17B ENST00000465150 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors TIMM17B HGNC TMEM161B 153396 genome.wustl.edu 37 5 87494811 87494811 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 87494811 87494811 C T SNP TMEM161B ENST00000296595 human ensembl 70_37 -1 known silent c.1071 p.T357 0.043 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC TNFRSF12A 51330 genome.wustl.edu 37 16 3071954 3071954 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 3071954 3071954 G A SNP TNFRSF12A ENST00000575124 human ensembl 70_37 +1 putative silent c.680 p.*227 0.086 NULL NULL - no_errors TNFRSF12A HGNC TNIK 23043 genome.wustl.edu 37 3 170875260 170875260 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 170875260 170875260 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.1210 p.R404W 1.000 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 TNIK HGNC TRIM2 23321 genome.wustl.edu 37 4 154216995 154216995 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 154216995 154216995 C T SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.1317 p.I439 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC TRPV6 55503 genome.wustl.edu 37 7 142575435 142575435 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 142575435 142575435 G C SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.318 p.V106 0.983 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC TSHZ1 10194 genome.wustl.edu 37 18 72999842 72999842 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 72999842 72999842 C T SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known missense c.2480 p.S827L 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC TTC28 23331 genome.wustl.edu 37 22 28494913 28494913 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 28494913 28494913 G A SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.3537 p.L1179 0.061 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC TTC3 7267 genome.wustl.edu 37 21 38528979 38528979 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 21 38528979 38528979 C G SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.2763 p.F921L 0.681 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC TTC3 7267 genome.wustl.edu 37 21 38529195 38529195 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 21 38529195 38529195 C G SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.2979 p.F993L 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC TTC5 91875 genome.wustl.edu 37 14 20767589 20767591 + In_Frame_Del DEL AGG AGG - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 20767589 20767591 AGG - DEL TTC5 ENST00000258821 human ensembl 70_37 -1 known in_frame_del c.415_413 p.S138in_frame_del 0.997:0.983:1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC TTN 7273 genome.wustl.edu 37 2 179577844 179577844 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 179577844 179577844 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.23285 p.S7762F 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UBA7 7318 genome.wustl.edu 37 3 49847050 49847050 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 49847050 49847050 C T SNP UBA7 ENST00000333486 human ensembl 70_37 -1 known silent c.2013 p.A671 0.128 superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC UCK1 83549 genome.wustl.edu 37 9 134400277 134400277 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 134400277 134400277 G C SNP UCK1 ENST00000484876 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UCK1 HGNC USP32P1 162632 genome.wustl.edu 37 17 16703657 16703657 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 16703657 16703657 C T SNP USP32P1 ENST00000341745 human ensembl 70_37 +1 known rna NULL NULL 0.816 - - - no_errors USP32P1 HGNC USP48 84196 genome.wustl.edu 37 1 22021695 22021695 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 22021695 22021695 C T SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.2747 p.R916Q 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC UTP20 27340 genome.wustl.edu 37 12 101760358 101760358 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 101760358 101760358 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.6148 p.D2050N 0.999 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC VAV3 10451 genome.wustl.edu 37 1 108315446 108315446 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 108315446 108315446 C T SNP VAV3 ENST00000370056 human ensembl 70_37 -1 known missense c.466 p.E156K 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC VRTN 55237 genome.wustl.edu 37 14 74824599 74824599 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 74824599 74824599 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.1113 p.M371I 0.666 NULL pfam_Transposase_8 - no_errors VRTN HGNC VRTN 55237 genome.wustl.edu 37 14 74824609 74824609 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 74824609 74824609 G C SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.1123 p.E375Q 1.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC VRTN 55237 genome.wustl.edu 37 14 74824914 74824914 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 74824914 74824914 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known silent c.1428 p.K476 0.822 NULL pfam_Transposase_8 - no_errors VRTN HGNC WHAMMP2 440253 genome.wustl.edu 37 15 28990895 28990895 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 28990895 28990895 C T SNP WHAMMP2 ENST00000508764 human ensembl 70_37 +1 putative rna NULL NULL 0.419 - - - no_errors WHAMMP2 HGNC WIBG 84305 genome.wustl.edu 37 12 56295840 56295840 + Nonsense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 56295840 56295840 G C SNP WIBG ENST00000408946 human ensembl 70_37 -1 known nonsense c.431 p.S144* 0.002 NULL pfam_EJC_Pym,superfamily_EJC_Pym - no_errors WIBG HGNC WT1-AS 51352 genome.wustl.edu 37 11 32461152 32461152 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 32461152 32461152 G C SNP WT1-AS ENST00000395900 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors WT1-AS HGNC WWC2 80014 genome.wustl.edu 37 4 184182333 184182333 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 184182333 184182333 G C SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.1557 p.Q519H 0.586 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC XIST 7503 genome.wustl.edu 37 X 73063712 73063712 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 73063712 73063712 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC YBEY 54059 genome.wustl.edu 37 21 47706844 47706844 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 21 47706844 47706844 G C SNP YBEY ENST00000329319 human ensembl 70_37 +1 known missense c.17 p.R6T 0.044 NULL pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd - no_errors YBEY HGNC ZC3H12B 340554 genome.wustl.edu 37 X 64709107 64709107 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 64709107 64709107 G T SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known missense c.426 p.L142F 0.997 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ZFP90 146198 genome.wustl.edu 37 16 68598252 68598252 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 68598252 68598252 G C SNP ZFP90 ENST00000398253 human ensembl 70_37 +1 known missense c.1562 p.G521A 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 ZFP90 HGNC ZIC1 7545 genome.wustl.edu 37 3 147131190 147131190 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 147131190 147131190 C T SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known missense c.1196 p.S399F 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ZIC2 7546 genome.wustl.edu 37 13 100637226 100637226 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 13 100637226 100637226 G C SNP ZIC2 ENST00000376335 human ensembl 70_37 +1 known missense c.1102 p.E368Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ZNF223 7766 genome.wustl.edu 37 19 44571244 44571244 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 44571244 44571244 C G SNP ZNF223 ENST00000591793 human ensembl 70_37 +1 known silent c.1593 p.L531 0.292 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_genename ZNF268 10795 genome.wustl.edu 37 12 133779005 133779005 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 133779005 133779005 G C SNP ZNF268 ENST00000228289 human ensembl 70_37 +1 known missense c.733 p.G245R 0.034 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 ZNF268 HGNC ZNF506 440515 genome.wustl.edu 37 19 19905635 19905635 + Nonsense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 19905635 19905635 G C SNP ZNF506 ENST00000443905 human ensembl 70_37 -1 known nonsense c.1061 p.S354* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ZNF536 9745 genome.wustl.edu 37 19 30935982 30935982 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 30935982 30935982 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1513 p.R505W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF544 27300 genome.wustl.edu 37 19 58773145 58773145 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 58773145 58773145 G T SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.1173 p.Q391H 0.522 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 ZNF544 HGNC ZNF571 51276 genome.wustl.edu 37 19 38055835 38055835 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 38055835 38055835 C T SNP ZNF571 ENST00000328550 human ensembl 70_37 -1 known missense c.1495 p.E499K 0.997 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 ZNF571 HGNC ZNF638 27332 genome.wustl.edu 37 2 71577290 71577290 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 71577290 71577290 G C SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.1206 p.Q402H 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ZNF658 26149 genome.wustl.edu 37 9 40774032 40774032 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 40774032 40774032 C T SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known missense c.1243 p.E415K 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 ZNF658 HGNC ZNF814 730051 genome.wustl.edu 37 19 58384363 58384363 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 58384363 58384363 G T SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.2395 p.P799T 0.969 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