Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ENSG00000203849 0 genome.wustl.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 142713774 142713774 A G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 61 0 0 50 7 12.2807 NBPF10 0 genome.wustl.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 145296373 145296373 G T SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.295 p.V99F 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 103 1 0.961538 143 9 5.92105 ECM1 0 genome.wustl.edu 37 1 150483401 150483401 + Nonsense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150483401 150483401 G A SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known nonsense c.516 p.W172* 0.007 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 158 0 0 300 61 16.8975 ECM1 0 genome.wustl.edu 37 1 150483459 150483459 + Missense_Mutation SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150483459 150483459 G C SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.574 p.D192H 1.000 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 258 0 0 420 80 16 ECM1 0 genome.wustl.edu 37 1 150483497 150483497 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150483497 150483497 G A SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known silent c.612 p.L204 0.988 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 310 1 0.321543 439 79 15.251 ECM1 0 genome.wustl.edu 37 1 150483588 150483588 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150483588 150483588 G A SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.703 p.E235K 0.012 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 206 0 0 424 86 16.8627 ECM1 0 genome.wustl.edu 37 1 150483691 150483691 + RNA SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150483691 150483691 G A SNP ECM1 ENST00000470432 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ECM1 HGNC ENSG00000143369 101 0 0 198 47 19.1837 ECM1 0 genome.wustl.edu 37 1 150483912 150483912 + RNA SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150483912 150483912 G A SNP ECM1 ENST00000470432 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors ECM1 HGNC ENSG00000143369 233 0 0 272 71 20.6997 ECM1 0 genome.wustl.edu 37 1 150484238 150484238 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150484238 150484238 G A SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known silent c.1095 p.L365 0.761 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 64 0 0 110 30 21.4286 ECM1 0 genome.wustl.edu 37 1 150484301 150484301 + Missense_Mutation SNP G G T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 150484301 150484301 G T SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.1158 p.W386C 0.994 pfam_ECM1,superfamily_Serum_albumin-like pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 75 0 0 103 28 21.374 ATP8B2 0 genome.wustl.edu 37 1 154316453 154316453 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 154316453 154316453 C T SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.1942 p.R648C 0.012 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 59 0 0 8 37 82.2222 FBLIM1 0 genome.wustl.edu 37 1 16101285 16101285 + Missense_Mutation SNP T T G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 16101285 16101285 T G SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known missense c.884 p.F295C 1.000 pfam_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 152 0 0 81 7 7.95455 QSOX1 0 genome.wustl.edu 37 1 180158716 180158716 + Missense_Mutation SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 180158716 180158716 C G SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.1047 p.N349K 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 170 0 0 18 72 80 MRTO4 0 genome.wustl.edu 37 1 19583562 19583562 + Missense_Mutation SNP T T A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 19583562 19583562 T A SNP MRTO4 ENST00000330263 human ensembl 74_37 +1 known missense c.196 p.F66I 1.000 pfam_Ribosomal_L10/acidic_P0 pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC ENSG00000053372 371 0 0 102 121 54.2601 OR2T2 0 genome.wustl.edu 37 1 248616749 248616749 + Silent SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 248616749 248616749 C G SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known silent c.651 p.V217 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 54 0 0 16 5 23.8095 OR2T2 0 genome.wustl.edu 37 1 248616764 248616764 + Silent SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 248616764 248616764 C T SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known silent c.666 p.I222 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 44 0 0 14 5 26.3158 PPIE 0 genome.wustl.edu 37 1 40208945 40208945 + Missense_Mutation SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 40208945 40208945 A G SNP PPIE ENST00000324379 human ensembl 74_37 +1 known missense c.259 p.I87V 1.000 pirsf_Cyclophilin-type_PPIase_E pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 59 0 0 49 5 9.25926 ACADM 0 genome.wustl.edu 37 1 76198785 76198785 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 76198785 76198785 G A SNP ACADM ENST00000370834 human ensembl 74_37 +1 novel silent c.336 p.A112 0.010 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 74 0 0 36 2 5.26316 RBMXL1 0 genome.wustl.edu 37 1 89448701 89448701 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 1 89448701 89448701 C T SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known missense c.809 p.R270H 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 260 0 0 125 53 29.7753 SFR1 0 genome.wustl.edu 37 10 105883872 105883872 + Missense_Mutation SNP A A T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 10 105883872 105883872 A T SNP SFR1 ENST00000336358 human ensembl 74_37 +1 known missense c.722 p.Y241F 1.000 pfam_Ds-recomb_repair_prot_Mei5 pfam_Ds-recomb_repair_prot_Mei5 - no_errors SFR1 HGNC ENSG00000156384 54 0 0 34 2 5.55556 FRG2B 0 genome.wustl.edu 37 10 135440184 135440184 + Missense_Mutation SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 10 135440184 135440184 C A SNP FRG2B ENST00000425520 human ensembl 74_37 -1 known missense c.63 p.Q21H 0.051 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 266 0 0 196 13 6.2201 ARHGAP12 0 genome.wustl.edu 37 10 32098152 32098152 + RNA SNP T T G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 10 32098152 32098152 T G SNP ARHGAP12 ENST00000493008 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ARHGAP12 HGNC ENSG00000165322 55 0 0 32 39 54.9296 ZNF33B 0 genome.wustl.edu 37 10 43127820 43127820 + Missense_Mutation SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 10 43127820 43127820 C G SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.77 p.W26S 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33B HGNC ENSG00000196693 89 0 0 30 19 38.7755 ENSG00000231345 0 genome.wustl.edu 37 10 52417929 52417929 + RNA SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 10 52417929 52417929 C T SNP ENSG00000231345 ENST00000449695 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors RP11-564C4.6 Clone_based_vega_gene ENSG00000231345 39 0 0 15 10 40 RDX 0 genome.wustl.edu 37 11 110106915 110106915 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 110106915 110106915 G A SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.1253 p.A418V 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 61 0 0 39 14 26.4151 APLP2 0 genome.wustl.edu 37 11 130011397 130011397 + Missense_Mutation SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 130011397 130011397 T C SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.1964 p.I655T 1.000 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 61 0 0 21 15 41.6667 OPCML 0 genome.wustl.edu 37 11 133402211 133402211 + Missense_Mutation SNP A A T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 133402211 133402211 A T SNP OPCML ENST00000524381 human ensembl 74_37 -1 known missense c.9 p.H3Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 36 0 0 8 9 52.9412 RPL26P30 0 genome.wustl.edu 37 11 2356949 2356949 + RNA SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 2356949 2356949 G A SNP RPL26P30 ENST00000602923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL26P30 HGNC ENSG00000236264 198 1 0.502513 48 83 63.3588 IMMP1L 0 genome.wustl.edu 37 11 31484782 31484782 + Silent SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 31484782 31484782 G C SNP IMMP1L ENST00000278200 human ensembl 74_37 -1 known silent c.42 p.G14 1.000 NULL pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP1L HGNC ENSG00000148950 72 0 0 51 4 7.27273 OR4C15 0 genome.wustl.edu 37 11 55322167 55322167 + Missense_Mutation SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 55322167 55322167 G C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.385 p.V129L 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 223 0 0 122 7 5.42636 IRF7 0 genome.wustl.edu 37 11 614318 614318 + Missense_Mutation SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 614318 614318 T C SNP IRF7 ENST00000330243 human ensembl 74_37 -1 known missense c.574 p.K192E 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 22 0 0 12 4 25 ARFIP2 0 genome.wustl.edu 37 11 6499103 6499103 + Nonsense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 6499103 6499103 G A SNP ARFIP2 ENST00000254584 human ensembl 74_37 -1 known nonsense c.715 p.R239* 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfscan_AH_dom - no_errors ARFIP2 HGNC ENSG00000132254 90 0 0 18 44 70.9677 MTNR1B 0 genome.wustl.edu 37 11 92715117 92715117 + Missense_Mutation SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 11 92715117 92715117 A G SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known missense c.728 p.K243R 0.083 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_Mel_1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 86 0 0 63 7 10 UNG 0 genome.wustl.edu 37 12 109536374 109536374 + Silent SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 12 109536374 109536374 G C SNP UNG ENST00000242576 human ensembl 74_37 +1 known silent c.270 p.V90 0.998 NULL pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC ENSG00000076248 126 0 0 35 38 52.0548 GCN1L1 0 genome.wustl.edu 37 12 120572458 120572458 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 12 120572458 120572458 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.7081 p.R2361W 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 151 0 0 47 51 52.0408 EIF2B1 0 genome.wustl.edu 37 12 124107237 124107237 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 12 124107237 124107237 G A SNP EIF2B1 ENST00000539951 human ensembl 74_37 -1 putative missense c.584 p.S195L 1.000 NULL pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 113 0 0 100 10 9.09091 F10 0 genome.wustl.edu 37 13 113783898 113783898 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 13 113783898 113783898 G A SNP F10 ENST00000375559 human ensembl 74_37 +1 known missense c.203 p.R68H 0.938 pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 116 0 0 79 37 31.8966 LOC101927016 0 genome.wustl.edu 37 13 64321199 64321199 + Missense_Mutation SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 13 64321199 64321199 G C SNP LOC101927016 ENST00000453638 human ensembl 74_37 +1 known missense c.266 p.G89A 0.218 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 99 0 0 91 5 5.20833 LOC101927016 0 genome.wustl.edu 37 13 64321251 64321251 + Silent SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 13 64321251 64321251 T C SNP LOC101927016 ENST00000453638 human ensembl 74_37 +1 known silent c.318 p.C106 0.892 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 76 0 0 84 6 6.66667 ENSG00000244306 0 genome.wustl.edu 37 14 19855320 19855320 + RNA SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 14 19855320 19855320 C A SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 47 0 0 11 3 21.4286 DHRS2 0 genome.wustl.edu 37 14 24114490 24114490 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 14 24114490 24114490 G A SNP DHRS2 ENST00000344777 human ensembl 74_37 +1 known silent c.882 p.V294 0.002 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS2 HGNC ENSG00000100867 147 0 0 70 4 5.40541 HECTD1 0 genome.wustl.edu 37 14 31647241 31647241 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 14 31647241 31647241 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known silent c.360 p.A120 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 128 0 0 60 5 7.69231 GPHN 0 genome.wustl.edu 37 14 67610161 67610161 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 14 67610161 67610161 G A SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.1831 p.E611K 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 174 0 0 46 42 47.7273 IRF2BPL 0 genome.wustl.edu 37 14 77492848 77492848 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 14 77492848 77492848 C T SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.1288 p.V430M 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 48 0 0 33 4 10.8108 WHAMMP3 0 genome.wustl.edu 37 15 23205184 23205184 + RNA SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 15 23205184 23205184 G A SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 0.696 - - - no_errors WHAMMP3 HGNC ENSG00000187667 13 0 0 13 3 18.75 WHAMMP3 0 genome.wustl.edu 37 15 23205193 23205193 + RNA SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 15 23205193 23205193 A G SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 11 0 0 13 3 18.75 PGBD4 0 genome.wustl.edu 37 15 34394921 34394921 + Missense_Mutation SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 15 34394921 34394921 C G SNP PGBD4 ENST00000397766 human ensembl 74_37 +1 known missense c.189 p.S63R 0.003 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 91 0 0 19 42 68.8525 MCTP2 0 genome.wustl.edu 37 15 94884108 94884108 + Silent SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 15 94884108 94884108 G C SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known silent c.924 p.V308 0.220 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 48 0 0 32 2 5.88235 RNA5-8SP2 0 genome.wustl.edu 37 16 33965459 33965459 + RNA SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 16 33965459 33965459 C T SNP RNA5-8SP2 ENST00000363564 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP2 HGNC ENSG00000200434 17 0 0 17 5 22.7273 CES1P1 0 genome.wustl.edu 37 16 55794575 55794575 + RNA SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 16 55794575 55794575 C T SNP CES1P1 ENST00000571348 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors CES1P1 HGNC ENSG00000228695 30 0 0 22 9 29.0323 PDP2 0 genome.wustl.edu 37 16 66919617 66919617 + Missense_Mutation SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 16 66919617 66919617 A G SNP PDP2 ENST00000311765 human ensembl 74_37 +1 known missense c.1430 p.H477R 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP2 HGNC ENSG00000172840 47 0 0 45 13 22.4138 DDX19A 0 genome.wustl.edu 37 16 70405340 70405340 + Missense_Mutation SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 16 70405340 70405340 C G SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known missense c.1249 p.P417A 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 31 0 0 42 11 20.7547 ZCCHC14 0 genome.wustl.edu 37 16 87445923 87445923 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 16 87445923 87445923 C T SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.1993 p.V665M 1.000 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 225 0 0 49 71 59.1667 SCARF1 0 genome.wustl.edu 37 17 1542118 1542118 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 1542118 1542118 C T SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.1346 p.R449Q 0.005 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 27 0 0 4 12 75 MYO15A 0 genome.wustl.edu 37 17 18039940 18039940 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 18039940 18039940 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.4719 p.A1573 0.012 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 49 0 0 13 33 71.7391 KRT16P1 0 genome.wustl.edu 37 17 18345010 18345010 + RNA SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 18345010 18345010 C T SNP KRT16P1 ENST00000581027 human ensembl 74_37 +1 known rna NULL NULL 0.673 - - - no_errors KRT16P1 HGNC ENSG00000214856 49 0 0 19 22 53.6585 VTN 0 genome.wustl.edu 37 17 26692243 26692243 + Silent SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 26692243 26692243 C G SNP VTN ENST00000431468 human ensembl 74_37 -1 known silent c.9 p.G3 0.097 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VTN HGNC ENSG00000109072 27 0 0 21 5 19.2308 KIAA0100 0 genome.wustl.edu 37 17 26970287 26970287 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 26970287 26970287 C T SNP KIAA0100 ENST00000583403 human ensembl 74_37 -1 known missense c.241 p.G81R 0.235 NULL NULL - no_errors KIAA0100 HGNC ENSG00000007202 87 0 0 93 6 6.06061 SUPT6H 0 genome.wustl.edu 37 17 27014416 27014416 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 27014416 27014416 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.2933 p.A978V 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 64 0 0 49 31 38.75 LOC100131347 0 genome.wustl.edu 37 17 37213317 37213317 + RNA SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 37213317 37213317 C A SNP LOC100131347 ENST00000578423 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 25 0 0 18 3 14.2857 LOC100131347 0 genome.wustl.edu 37 17 37264203 37264203 + RNA SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 37264203 37264203 G A SNP LOC100131347 ENST00000578423 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 16 0 0 18 21 53.8462 KRTAP4-2 0 genome.wustl.edu 37 17 39334187 39334187 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 39334187 39334187 C T SNP KRTAP4-2 ENST00000377726 human ensembl 74_37 -1 known missense c.230 p.R77H 0.056 NULL NULL - no_errors KRTAP4-2 HGNC ENSG00000244537 106 0 0 74 74 50 FMNL1 0 genome.wustl.edu 37 17 43320550 43320550 + Silent SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 43320550 43320550 C A SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.2076 p.L692 0.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 213 1 0.46729 96 39 28.8889 CSHL1 0 genome.wustl.edu 37 17 61987473 61987473 + Missense_Mutation SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 61987473 61987473 T C SNP CSHL1 ENST00000561003 human ensembl 74_37 -1 novel missense c.271 p.R91G 0.000 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core - no_errors CSHL1 HGNC ENSG00000204414 132 0 0 48 53 52.4752 TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 7578265 7578265 A T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.584 p.I195N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 62 0 0 15 21 58.3333 ANKRD30B 0 genome.wustl.edu 37 18 14851958 14851958 + Missense_Mutation SNP A A T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 18 14851958 14851958 A T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3658 p.S1220C 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 9 0 0 21 6 22.2222 YES1 0 genome.wustl.edu 37 18 736827 736827 + Silent SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 18 736827 736827 A G SNP YES1 ENST00000314574 human ensembl 74_37 -1 known silent c.1272 p.N424 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 69 0 0 40 16 28.5714 OAZ1 0 genome.wustl.edu 37 19 2271925 2271925 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 19 2271925 2271925 G A SNP OAZ1 ENST00000322297 human ensembl 74_37 +1 known missense c.433 p.G145S 0.991 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ1 HGNC ENSG00000104904 23 0 0 10 14 58.3333 SIPA1L3 0 genome.wustl.edu 37 19 38573204 38573204 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 19 38573204 38573204 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.999 p.P333 0.359 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 62 0 0 47 7 12.963 SARS2 0 genome.wustl.edu 37 19 39412044 39412044 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 19 39412044 39412044 C T SNP SARS2 ENST00000600042 human ensembl 74_37 -1 known missense c.583 p.G195R 1.000 pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 35 0 0 37 8 17.7778 ZNF222 0 genome.wustl.edu 37 19 44537105 44537105 + Missense_Mutation SNP A A C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 19 44537105 44537105 A C SNP ZNF222 ENST00000391960 human ensembl 74_37 +1 known missense c.1398 p.K466N 0.272 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 ZNF222 HGNC ENSG00000159885 91 0 0 96 15 13.5135 ZNF229 0 genome.wustl.edu 37 19 44933480 44933480 + Missense_Mutation SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 19 44933480 44933480 G C SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known missense c.1476 p.D492E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 183 0 0 124 15 10.7914 ZNF611 0 genome.wustl.edu 37 19 53208636 53208636 + Missense_Mutation SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 19 53208636 53208636 T C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.1672 p.R558G 0.928 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 ZNF611 HGNC ENSG00000213020 269 0 0 221 49 18.1481 PEG3 0 genome.wustl.edu 37 19 57329167 57329167 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 19 57329167 57329167 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.809 p.T270M 0.989 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 28 0 0 11 21 65.625 NCK2 0 genome.wustl.edu 37 2 106497824 106497824 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 106497824 106497824 G A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known silent c.267 p.A89 0.038 pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 64 0 0 28 72 72 ST6GAL2 0 genome.wustl.edu 37 2 107460276 107460276 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 107460276 107460276 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.158 p.P53L 1.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 38 0 0 74 7 8.64198 NBAS 0 genome.wustl.edu 37 2 15607529 15607529 + Missense_Mutation SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 15607529 15607529 A G SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.2021 p.L674S 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 62 0 0 39 8 17.0213 TTN 0 genome.wustl.edu 37 2 179408680 179408680 + Missense_Mutation SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 179408680 179408680 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.88487 p.T29496S 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 141 0 0 55 39 41.4894 ENSG00000231689 0 genome.wustl.edu 37 2 189092669 189092669 + RNA SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 189092669 189092669 T C SNP ENSG00000231689 ENST00000415357 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC068718.1 Clone_based_vega_gene ENSG00000231689 81 0 0 14 31 68.8889 GDF7 0 genome.wustl.edu 37 2 20870856 20870856 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 20870856 20870856 G A SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known missense c.1024 p.G342R 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 15 0 0 10 4 28.5714 SMARCAL1 0 genome.wustl.edu 37 2 217285091 217285091 + Nonsense_Mutation SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 217285091 217285091 C A SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known nonsense c.932 p.S311* 0.000 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 45 0 0 25 17 40.4762 TRIP12 0 genome.wustl.edu 37 2 230725133 230725133 + Missense_Mutation SNP G G T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 230725133 230725133 G T SNP TRIP12 ENST00000543084 human ensembl 74_37 -1 known missense c.213 p.H71Q 1.000 NULL NULL - no_errors TRIP12 HGNC ENSG00000153827 148 0 0 30 53 63.8554 COL6A3 0 genome.wustl.edu 37 2 238303696 238303696 + Silent SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 238303696 238303696 G C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.243 p.V81 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 93 0 0 49 11 18.3333 GPR35 0 genome.wustl.edu 37 2 241569692 241569692 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 241569692 241569692 C T SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known missense c.416 p.T139M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 41 0 0 34 3 8.10811 DNAJC5G 0 genome.wustl.edu 37 2 27500827 27500827 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 27500827 27500827 C T SNP DNAJC5G ENST00000296097 human ensembl 74_37 +1 known missense c.319 p.H107Y 1.000 prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5G HGNC ENSG00000163793 102 0 0 62 26 29.5455 ACTR1B 0 genome.wustl.edu 37 2 98275089 98275089 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 98275089 98275089 G A SNP ACTR1B ENST00000289228 human ensembl 74_37 -1 known missense c.458 p.T153M 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1B HGNC ENSG00000115073 117 0 0 118 28 19.1781 INSM1 0 genome.wustl.edu 37 20 20349829 20349829 + Silent SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 20 20349829 20349829 C T SNP INSM1 ENST00000310227 human ensembl 74_37 +1 known silent c.918 p.C306 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM1 HGNC ENSG00000173404 9 0 0 14 5 26.3158 RAE1 0 genome.wustl.edu 37 20 55949845 55949845 + Silent SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 20 55949845 55949845 C T SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known silent c.1008 p.Y336 0.927 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 70 0 0 67 6 8.21918 DSCAM 0 genome.wustl.edu 37 21 42080394 42080394 + Missense_Mutation SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 21 42080394 42080394 A G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.347 p.V116A 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 122 0 0 107 6 5.30973 ARVCF 0 genome.wustl.edu 37 22 19967629 19967629 + Missense_Mutation SNP A A T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 22 19967629 19967629 A T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1033 p.S345T 0.999 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 11 0 0 7 7 50 INPP5J 0 genome.wustl.edu 37 22 31520866 31520866 + Silent SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 22 31520866 31520866 C T SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known silent c.141 p.N47 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 53 0 0 33 2 5.71429 KCNJ4 0 genome.wustl.edu 37 22 38823654 38823654 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 22 38823654 38823654 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.484 p.V162I 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 84 0 0 24 18 42.8571 TRMT10C 0 genome.wustl.edu 37 3 101283802 101283802 + Silent SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 3 101283802 101283802 A G SNP TRMT10C ENST00000309922 human ensembl 74_37 +1 known silent c.177 p.E59 0.963 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 169 0 0 186 17 8.37438 PARP14 0 genome.wustl.edu 37 3 122419782 122419782 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 3 122419782 122419782 C T SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.2381 p.S794F 0.000 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 86 0 0 94 6 6 DGKG 0 genome.wustl.edu 37 3 185997678 185997678 + Missense_Mutation SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 3 185997678 185997678 T C SNP DGKG ENST00000265022 human ensembl 74_37 -1 known missense c.754 p.T252A 1.000 smart_EF_hand_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 140 0 0 112 27 19.4245 RRP9 0 genome.wustl.edu 37 3 51969657 51969657 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 3 51969657 51969657 G A SNP RRP9 ENST00000232888 human ensembl 74_37 -1 known missense c.787 p.R263C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC ENSG00000114767 72 0 0 39 4 9.30233 DNAH1 0 genome.wustl.edu 37 3 52426963 52426963 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 3 52426963 52426963 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.10396 p.V3466M 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 234 0 0 102 14 12.069 NDST3 0 genome.wustl.edu 37 4 118975431 118975431 + Missense_Mutation SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 4 118975431 118975431 C G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.366 p.D122E 0.997 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 51 0 0 34 5 12.8205 TNIP3 0 genome.wustl.edu 37 4 122071373 122071373 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 4 122071373 122071373 G A SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.494 p.A165V 0.997 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 57 0 0 12 14 53.8462 FAM198B 0 genome.wustl.edu 37 4 159076867 159076867 + Missense_Mutation SNP G G T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 4 159076867 159076867 G T SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.1045 p.Q349K 1.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 92 0 0 17 7 29.1667 VEGFC 0 genome.wustl.edu 37 4 177713378 177713378 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 4 177713378 177713378 C T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.88 p.A30T 1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 39 0 0 6 11 64.7059 DUX4L4 0 genome.wustl.edu 37 4 191003218 191003218 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 4 191003218 191003218 C T SNP DUX4L4 ENST00000538692 human ensembl 74_37 +1 known missense c.1129 p.P377S 0.024 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_Homeobox_dom - no_errors DUX4L4 HGNC ENSG00000258834 16 0 0 12 4 25 DUX4L4 0 genome.wustl.edu 37 4 191003238 191003238 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 4 191003238 191003238 G A SNP DUX4L4 ENST00000538692 human ensembl 74_37 +1 known silent c.1149 p.A383 0.009 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_Homeobox_dom - no_errors DUX4L4 HGNC ENSG00000258834 17 0 0 9 5 35.7143 SLCO4C1 0 genome.wustl.edu 37 5 101572693 101572693 + Missense_Mutation SNP A A C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 101572693 101572693 A C SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.2044 p.F682V 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 62 0 0 32 14 30.4348 SPOCK1 0 genome.wustl.edu 37 5 136328253 136328253 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 136328253 136328253 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.626 p.R209Q 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 100 0 0 48 19 28.3582 PCDHB11 0 genome.wustl.edu 37 5 140581079 140581079 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 140581079 140581079 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1732 p.R578W 0.017 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 26 0 0 10 21 67.7419 ADAM19 0 genome.wustl.edu 37 5 156917340 156917340 + Missense_Mutation SNP A A C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 156917340 156917340 A C SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.2224 p.S742A 0.983 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 104 0 0 75 8 9.63855 C1QTNF2 0 genome.wustl.edu 37 5 159781800 159781800 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 159781800 159781800 G A SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known silent c.354 p.G118 0.937 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 46 0 0 8 9 52.9412 ERGIC1 0 genome.wustl.edu 37 5 172315710 172315710 + Missense_Mutation SNP T T G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 172315710 172315710 T G SNP ERGIC1 ENST00000393784 human ensembl 74_37 +1 known missense c.29 p.I10S 1.000 NULL pfam_Erv_C - no_errors ERGIC1 HGNC ENSG00000113719 85 0 0 38 19 33.3333 NSUN2 0 genome.wustl.edu 37 5 6620357 6620357 + Missense_Mutation SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 6620357 6620357 T C SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.677 p.H226R 1.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 159 0 0 91 27 22.8814 AKAP12 0 genome.wustl.edu 37 6 151672866 151672866 + Missense_Mutation SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 6 151672866 151672866 C A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.3340 p.Q1114K 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 50 0 0 80 40 33.3333 MTRF1L 0 genome.wustl.edu 37 6 153311232 153311232 + Splice_Site SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 6 153311232 153311232 T C SNP MTRF1L ENST00000367233 human ensembl 74_37 -1 known splice_site c.943-2 e7-2 0.998 - - - no_errors MTRF1L HGNC ENSG00000112031 75 0 0 69 20 22.4719 ITPR3 0 genome.wustl.edu 37 6 33638124 33638124 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 6 33638124 33638124 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.2212 p.R738C 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 114 0 0 70 10 12.5 DNAH8 0 genome.wustl.edu 37 6 38950205 38950205 + Missense_Mutation SNP T T G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 6 38950205 38950205 T G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.12267 p.I4089M 0.997 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 119 0 0 46 81 63.7795 GLP1R 0 genome.wustl.edu 37 6 39048491 39048491 + Silent SNP A A C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 6 39048491 39048491 A C SNP GLP1R ENST00000373256 human ensembl 74_37 +1 known silent c.1200 p.I400 0.993 pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 88 0 0 41 4 8.88889 GUCA1A 0 genome.wustl.edu 37 6 42146128 42146128 + Silent SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 6 42146128 42146128 C T SNP GUCA1A ENST00000053469 human ensembl 74_37 +1 known silent c.312 p.N104 0.992 pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1A HGNC ENSG00000048545 153 0 0 27 64 70.3297 COL19A1 0 genome.wustl.edu 37 6 70866609 70866609 + Silent SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 6 70866609 70866609 C T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known silent c.2286 p.G762 0.874 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 42 0 0 15 3 16.6667 DGKI 0 genome.wustl.edu 37 7 137255996 137255996 + Silent SNP A A T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 7 137255996 137255996 A T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known silent c.1872 p.G624 0.076 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,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 42 0 0 32 3 8.57143 GIMAP6 0 genome.wustl.edu 37 7 150324850 150324850 + Missense_Mutation SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 7 150324850 150324850 G A SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known missense c.836 p.S279F 0.011 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 101 0 0 77 8 9.41176 WBSCR17 0 genome.wustl.edu 37 7 70886089 70886089 + Silent SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 7 70886089 70886089 C A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.960 p.I320 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 38 0 0 30 3 9.09091 NCF1 0 genome.wustl.edu 37 7 74197927 74197927 + Missense_Mutation SNP C C A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 7 74197927 74197927 C A SNP NCF1 ENST00000289473 human ensembl 74_37 +1 known missense c.634 p.P212T 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX - no_errors NCF1 HGNC ENSG00000158517 78 0 0 19 26 57.7778 PCLO 0 genome.wustl.edu 37 7 82387999 82387999 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 7 82387999 82387999 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.15321 p.M5107I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 100 1 0.990099 33 56 62.9213 RP1L1 0 genome.wustl.edu 37 8 10473978 10473978 + Silent SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 8 10473978 10473978 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.729 p.G243 0.020 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 113 0 0 15 34 69.3878 PKHD1L1 0 genome.wustl.edu 37 8 110448585 110448585 + Missense_Mutation SNP T T C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 8 110448585 110448585 T C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.3524 p.L1175S 0.935 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 65 0 0 71 25 26.0417 TOP1MT 0 genome.wustl.edu 37 8 144399936 144399936 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 8 144399936 144399936 G A SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known silent c.1287 p.N429 1.000 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 80 0 0 71 10 12.3457 SNORD13 0 genome.wustl.edu 37 8 33371074 33371074 + RNA SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 8 33371074 33371074 G C SNP SNORD13 ENST00000459299 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD13 HGNC ENSG00000239039 106 0 0 65 5 7.14286 SNORD13 0 genome.wustl.edu 37 8 33371095 33371095 + RNA SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 8 33371095 33371095 C T SNP SNORD13 ENST00000459299 human ensembl 74_37 +1 known rna NULL NULL 0.560 - - - no_errors SNORD13 HGNC ENSG00000239039 92 0 0 62 5 7.46269 UBXN2B 0 genome.wustl.edu 37 8 59359985 59359985 + Missense_Mutation SNP C C G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 8 59359985 59359985 C G SNP UBXN2B ENST00000399598 human ensembl 74_37 +1 known missense c.871 p.P291A 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2B HGNC ENSG00000215114 102 0 0 147 28 16 PKIA 0 genome.wustl.edu 37 8 79510755 79510755 + Missense_Mutation SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 8 79510755 79510755 G C SNP PKIA ENST00000352966 human ensembl 74_37 +1 known missense c.136 p.D46H 1.000 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIA HGNC ENSG00000171033 147 0 0 223 13 5.50847 INVS 0 genome.wustl.edu 37 9 102988399 102988399 + Missense_Mutation SNP A A G TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 9 102988399 102988399 A G SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.329 p.K110R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 36 0 0 17 12 41.3793 FCN1 0 genome.wustl.edu 37 9 137801728 137801728 + Missense_Mutation SNP G G T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 9 137801728 137801728 G T SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known missense c.897 p.S299R 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 124 0 0 77 43 35.8333 TUBBP5 0 genome.wustl.edu 37 9 141070116 141070116 + RNA SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 9 141070116 141070116 G A SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 97 0 0 56 7 11.1111 CNTLN 0 genome.wustl.edu 37 9 17236494 17236494 + Missense_Mutation SNP C C T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 9 17236494 17236494 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.757 p.R253C 0.541 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 102 0 0 52 42 44.6809 MLLT3 0 genome.wustl.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 9 20414340 20414340 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.504 p.S168 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 46 0 0 99 6 5.71429 TRPM3 0 genome.wustl.edu 37 9 73442845 73442845 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 9 73442845 73442845 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.897 p.N299 0.978 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 174 0 0 103 33 24.2647 IGSF1 0 genome.wustl.edu 37 X 130409205 130409205 + Silent SNP G G A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e X 130409205 130409205 G A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.3255 p.G1085 0.951 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 139 1 0.714286 23 104 81.8898 HEPH 0 genome.wustl.edu 37 X 65476078 65476078 + Missense_Mutation SNP G G C TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e X 65476078 65476078 G C SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.2964 p.W988C 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 71 0 0 35 25 41.6667 TAS2R42 0 genome.wustl.edu 37 12 11338798 11338799 + Frame_Shift_Ins INS - - A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 12 11338798 11338799 - A INS TAS2R42 ENST00000334266 human ensembl 74_37 -1 known frame_shift_ins c.746_745 p.S249fs 0.000:0.015 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 62 0 0 64 26 28.8889 TMEM92 0 genome.wustl.edu 37 17 48356643 48356644 + Frame_Shift_Ins INS - - GG TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 17 48356643 48356644 - GG INS TMEM92 ENST00000300433 human ensembl 74_37 +1 known frame_shift_ins c.454_455 p.I154fs 0.001:0.006 NULL NULL - no_errors TMEM92 HGNC ENSG00000167105 281 0 0 91 67 42.4051 ANKAR 0 genome.wustl.edu 37 2 190584318 190584326 + In_Frame_Del DEL AATCTATTA AATCTATTA - TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 AATCTATTA AATCTATTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 2 190584318 190584326 AATCTATTA - DEL ANKAR ENST00000313581 human ensembl 74_37 +1 known in_frame_del c.2245_2253 p.NLL749in_frame_del 0.216:0.119:0.030:0.046:0.076:0.024:0.101:0.902:0.907 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 56 0 0 10 8 44.4444 SMC4 0 genome.wustl.edu 37 3 160143939 160143940 + Frame_Shift_Ins INS - - A TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 3 160143939 160143940 - A INS SMC4 ENST00000344722 human ensembl 74_37 +1 known frame_shift_ins c.2556_2557 p.Q855fs 1.000:0.998 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 234 0 0 193 31 13.8393 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838275 + RNA DEL AA AA - TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 3 197838274 197838275 AA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 22 0 0 21 4 16 CARD6 0 genome.wustl.edu 37 5 40853093 40853094 + Frame_Shift_Ins INS - - T TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 5 40853093 40853094 - T INS CARD6 ENST00000254691 human ensembl 74_37 +1 known frame_shift_ins c.1659_1660 p.T556fs 0.959:0.998 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 181 0 0 133 58 30.3665 NEUROD6 0 genome.wustl.edu 37 7 31378635 31378635 + Frame_Shift_Del DEL T T - TCGA-HU-A4GD-01A-11D-A25D-08 TCGA-HU-A4GD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3980b1e2-d2d8-465d-b17f-840abcfc76f7 bf189546-e18b-4a55-8d8e-200019850a6e 7 31378635 31378635 T - DEL NEUROD6 ENST00000297142 human ensembl 74_37 -1 known frame_shift_del c.248 p.K83fs 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD6 HGNC ENSG00000164600 286 0 0 236 24 9.23077