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 AAAS 8086 genome.wustl.edu 37 12 53702789 53702789 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53702789 53702789 C T SNP AAAS ENST00000209873 human ensembl 70_37 -1 known silent c.951 p.Q317 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC AAMP 14 genome.wustl.edu 37 2 219134716 219134716 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 219134716 219134716 C G SNP AAMP ENST00000248450 human ensembl 70_37 -1 known missense c.94 p.E32Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC AATK 9625 genome.wustl.edu 37 17 79094733 79094733 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79094733 79094733 G A SNP AATK ENST00000374792 human ensembl 70_37 -1 known nonsense c.2632 p.R878* 0.992 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ABCA10 10349 genome.wustl.edu 37 17 67171598 67171598 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 67171598 67171598 G A SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known silent c.2826 p.I942 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ABCA10 10349 genome.wustl.edu 37 17 67186575 67186575 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 67186575 67186575 C T SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known silent c.2055 p.R685 0.007 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ABCA12 26154 genome.wustl.edu 37 2 215875124 215875124 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215875124 215875124 C G SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2403 p.L801F 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA12 26154 genome.wustl.edu 37 2 215876785 215876785 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215876785 215876785 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.2031 p.L677 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA12 26154 genome.wustl.edu 37 2 215884415 215884415 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215884415 215884415 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.1393 p.E465K 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA13 154664 genome.wustl.edu 37 7 48315793 48315793 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 48315793 48315793 G C SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.6530 p.R2177T 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA13 154664 genome.wustl.edu 37 7 48431563 48431563 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 48431563 48431563 C G SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.11700 p.I3900M 0.001 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA4 24 genome.wustl.edu 37 1 94467069 94467069 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94467069 94467069 C T SNP ABCA4 ENST00000465352 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ABCA4 HGNC ABCA7 10347 genome.wustl.edu 37 19 1042338 1042338 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 1042338 1042338 C T SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.440 p.S147F 0.000 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ABCA8 10351 genome.wustl.edu 37 17 66871433 66871433 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 66871433 66871433 C T SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known silent c.4599 p.L1533 0.860 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ABCA8 10351 genome.wustl.edu 37 17 66914283 66914283 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 66914283 66914283 G C SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known nonsense c.1952 p.S651* 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ABCA9 10350 genome.wustl.edu 37 17 67014661 67014661 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 67014661 67014661 G C SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known nonsense c.2660 p.S887* 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ABCB5 340273 genome.wustl.edu 37 7 20782555 20782555 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 20782555 20782555 G A SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known missense c.1745 p.R582H 0.998 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ABCC10 89845 genome.wustl.edu 37 6 43400097 43400097 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43400097 43400097 C G SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known missense c.379 p.H127D 0.000 NULL 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 - no_errors ABCC10 HGNC ABCC12 94160 genome.wustl.edu 37 16 48172185 48172185 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 48172185 48172185 C T SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.933 p.L311 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 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 - no_errors ABCC12 HGNC ABCC5 10057 genome.wustl.edu 37 3 183685504 183685504 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183685504 183685504 G C SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known silent c.1812 p.L604 0.975 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCC5 HGNC ABCC6P1 653190 genome.wustl.edu 37 16 18584367 18584367 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 18584367 18584367 C T SNP ABCC6P1 ENST00000546162 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ABCC6P1 HGNC ABCC6P1 653190 genome.wustl.edu 37 16 18584400 18584400 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 18584400 18584400 G A SNP ABCC6P1 ENST00000565118 human ensembl 70_37 +1 known rna NULL NULL 0.054 - - - no_errors ABCC6P1 HGNC ABCD3 5825 genome.wustl.edu 37 1 94980663 94980663 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94980663 94980663 C G SNP ABCD3 ENST00000464165 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCD3 HGNC ABHD2 11057 genome.wustl.edu 37 15 89728683 89728683 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 89728683 89728683 C G SNP ABHD2 ENST00000352732 human ensembl 70_37 +1 known missense c.751 p.Q251E 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ABHD8 79575 genome.wustl.edu 37 19 17405099 17405099 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17405099 17405099 C A SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known nonsense c.1147 p.E383* 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ABL1 25 genome.wustl.edu 37 9 133759498 133759498 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 133759498 133759498 G A SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known silent c.1878 p.K626 1.000 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ACAA2 10449 genome.wustl.edu 37 18 47310231 47310231 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 47310231 47310231 G A SNP ACAA2 ENST00000285093 human ensembl 70_37 -1 known nonsense c.1180 p.Q394* 0.016 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ACADM 34 genome.wustl.edu 37 1 76200550 76200550 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 76200550 76200550 G C SNP ACADM ENST00000420607 human ensembl 70_37 +1 known missense c.474 p.L158F 0.285 superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ACADS 35 genome.wustl.edu 37 12 121176978 121176978 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 121176978 121176978 C T SNP ACADS ENST00000242592 human ensembl 70_37 +1 known silent c.1065 p.A355 0.911 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ACADS 35 genome.wustl.edu 37 12 121177133 121177133 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 121177133 121177133 C G SNP ACADS ENST00000242592 human ensembl 70_37 +1 known missense c.1121 p.T374R 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ACAT1 38 genome.wustl.edu 37 11 108018080 108018080 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 108018080 108018080 G A SNP ACAT1 ENST00000265838 human ensembl 70_37 +1 known missense c.1247 p.G416E 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ACE 1636 genome.wustl.edu 37 17 61568382 61568382 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 61568382 61568382 G C SNP ACE ENST00000290866 human ensembl 70_37 +1 known silent c.2709 p.S903 0.205 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ACHE 43 genome.wustl.edu 37 7 100491481 100491481 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100491481 100491481 C G SNP ACHE ENST00000302913 human ensembl 70_37 -1 known missense c.373 p.E125Q 0.999 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ACOT7 11332 genome.wustl.edu 37 1 6409872 6409872 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 6409872 6409872 G C SNP ACOT7 ENST00000377855 human ensembl 70_37 -1 known missense c.228 p.I76M 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ACOT9 23597 genome.wustl.edu 37 X 23722844 23722844 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 23722844 23722844 C G SNP ACOT9 ENST00000379303 human ensembl 70_37 -1 known missense c.1225 p.E409Q 0.998 NULL pfam_Thioestr_supf - no_errors ACOT9 HGNC ACOX1 51 genome.wustl.edu 37 17 73945634 73945634 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73945634 73945634 C T SNP ACOX1 ENST00000293217 human ensembl 70_37 -1 known missense c.1526 p.R509K 1.000 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ACOX2 8309 genome.wustl.edu 37 3 58510215 58510215 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 58510215 58510215 C G SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known missense c.1464 p.Q488H 0.928 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ACPT 93650 genome.wustl.edu 37 19 51295547 51295547 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51295547 51295547 G A SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.319 p.E107K 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ACRV1 56 genome.wustl.edu 37 11 125546339 125546339 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 125546339 125546339 C T SNP ACRV1 ENST00000533904 human ensembl 70_37 -1 known missense c.588 p.M196I 1.000 NULL NULL - no_errors ACRV1 HGNC ACSL3 2181 genome.wustl.edu 37 2 223789179 223789179 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 223789179 223789179 C T SNP ACSL3 ENST00000357430 human ensembl 70_37 +1 known silent c.1158 p.I386 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ACSS3 79611 genome.wustl.edu 37 12 81503391 81503391 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 81503391 81503391 G C SNP ACSS3 ENST00000548058 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 pfam_Acyl-CoA_synth_DUF3448 pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ACTL10 170487 genome.wustl.edu 37 20 32255523 32255523 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 32255523 32255523 C T SNP ACTL10 ENST00000330271 human ensembl 70_37 +1 putative missense c.220 p.R74C 0.812 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTL10 HGNC ACTL6A 86 genome.wustl.edu 37 3 179294466 179294466 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 179294466 179294466 C G SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known missense c.630 p.F210L 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC ACTR1B 10120 genome.wustl.edu 37 2 98275838 98275838 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 98275838 98275838 G A SNP ACTR1B ENST00000289228 human ensembl 70_37 -1 known nonsense c.292 p.Q98* 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1B HGNC ACTR3B 57180 genome.wustl.edu 37 7 152520588 152520588 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 152520588 152520588 C T SNP ACTR3B ENST00000256001 human ensembl 70_37 +1 known silent c.846 p.F282 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR3B HGNC ACTR5 79913 genome.wustl.edu 37 20 37377191 37377191 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 37377191 37377191 G A SNP ACTR5 ENST00000243903 human ensembl 70_37 +1 known missense c.70 p.V24M 0.002 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ACTR6 64431 genome.wustl.edu 37 12 100594632 100594632 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 100594632 100594632 G T SNP ACTR6 ENST00000188312 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ACTR6 64431 genome.wustl.edu 37 12 100617638 100617638 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 100617638 100617638 G A SNP ACTR6 ENST00000188312 human ensembl 70_37 +1 known missense c.1136 p.R379K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ACTRT3 84517 genome.wustl.edu 37 3 169486122 169486122 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 169486122 169486122 C T SNP ACTRT3 ENST00000330368 human ensembl 70_37 -1 known missense c.217 p.G73S 0.999 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTRT3 HGNC ACVR2A 92 genome.wustl.edu 37 2 148674909 148674909 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 148674909 148674909 G C SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known missense c.730 p.E244Q 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,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ADAM21 8747 genome.wustl.edu 37 14 70926378 70926378 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 70926378 70926378 C G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known nonsense c.2162 p.S721* 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ADAM32 203102 genome.wustl.edu 37 8 39133369 39133369 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 39133369 39133369 C G SNP ADAM32 ENST00000379907 human ensembl 70_37 +1 known missense c.2263 p.Q755E 0.000 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 - no_errors ADAM32 HGNC ADAM9 8754 genome.wustl.edu 37 8 38874802 38874802 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38874802 38874802 G C SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.475 p.E159Q 1.000 pfam_Peptidase_M12B_N 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 - no_errors ADAM9 HGNC ADAM9 8754 genome.wustl.edu 37 8 38874932 38874932 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38874932 38874932 G C SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.605 p.R202P 1.000 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 - no_errors ADAM9 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33614445 33614445 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 33614445 33614445 C G SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.2425 p.E809Q 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33881290 33881290 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 33881290 33881290 G A SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known silent c.423 p.L141 0.920 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADAMTS15 170689 genome.wustl.edu 37 11 130319206 130319206 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 130319206 130319206 C G SNP ADAMTS15 ENST00000299164 human ensembl 70_37 +1 known missense c.338 p.S113W 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ADAMTS17 170691 genome.wustl.edu 37 15 100594105 100594105 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 100594105 100594105 C G SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known missense c.2292 p.L764F 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ADAMTS19 171019 genome.wustl.edu 37 5 128887591 128887591 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 128887591 128887591 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.1345 p.D449N 1.000 pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ADAMTS19 171019 genome.wustl.edu 37 5 129037283 129037283 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 129037283 129037283 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.3139 p.E1047K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43840473 43840473 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 43840473 43840473 C G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2122 p.D708H 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADAMTS6 11174 genome.wustl.edu 37 5 64511297 64511297 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64511297 64511297 C G SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.2290 p.D764H 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ADAMTS6 11174 genome.wustl.edu 37 5 64625257 64625257 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64625257 64625257 C T SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.1171 p.E391K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ADARB1 104 genome.wustl.edu 37 21 46596439 46596439 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 46596439 46596439 G C SNP ADARB1 ENST00000360697 human ensembl 70_37 +1 known missense c.823 p.E275Q 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB1 HGNC ADCK1 57143 genome.wustl.edu 37 14 78365500 78365500 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 78365500 78365500 G A SNP ADCK1 ENST00000238561 human ensembl 70_37 +1 known missense c.640 p.D214N 1.000 pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ADCK1 57143 genome.wustl.edu 37 14 78365503 78365503 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 78365503 78365503 G A SNP ADCK1 ENST00000238561 human ensembl 70_37 +1 known missense c.643 p.E215K 1.000 pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ADCY2 108 genome.wustl.edu 37 5 7802394 7802394 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 7802394 7802394 G C SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known missense c.2692 p.E898Q 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ADCY8 114 genome.wustl.edu 37 8 131880181 131880181 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 131880181 131880181 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.2121 p.M707I 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ADCYAP1R1 117 genome.wustl.edu 37 7 31121330 31121330 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 31121330 31121330 G A SNP ADCYAP1R1 ENST00000304166 human ensembl 70_37 +1 known missense c.289 p.E97K 0.733 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt 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_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ADD2 119 genome.wustl.edu 37 2 70904899 70904899 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 70904899 70904899 C A SNP ADD2 ENST00000264436 human ensembl 70_37 -1 known missense c.1494 p.M498I 0.999 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ADRBK1 156 genome.wustl.edu 37 11 67049187 67049187 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 67049187 67049187 G C SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known missense c.814 p.D272H 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_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC AFG3L2 10939 genome.wustl.edu 37 18 12353040 12353040 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 12353040 12353040 C G SNP AFG3L2 ENST00000269143 human ensembl 70_37 -1 known missense c.1282 p.E428Q 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC AFTPH 54812 genome.wustl.edu 37 2 64779560 64779560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 64779560 64779560 C G SNP AFTPH ENST00000422803 human ensembl 70_37 +1 known missense c.952 p.P318A 0.001 NULL NULL - no_errors AFTPH HGNC AGAP11 119385 genome.wustl.edu 37 10 88768653 88768653 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 88768653 88768653 C T SNP AGAP11 ENST00000433214 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors AGAP11 HGNC AGR2 10551 genome.wustl.edu 37 7 16840805 16840805 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 16840805 16840805 G C SNP AGR2 ENST00000419572 human ensembl 70_37 -1 known missense c.286 p.H96D 0.999 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors AGR2 HGNC ETNPPL 64850 genome.wustl.edu 37 4 109670544 109670544 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 109670544 109670544 G C SNP AGXT2L1 ENST00000296486 human ensembl 70_37 -1 known missense c.777 p.F259L 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC AHDC1 27245 genome.wustl.edu 37 1 27861137 27861137 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27861137 27861137 C T SNP AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AHDC1 HGNC AHI1 54806 genome.wustl.edu 37 6 135769614 135769614 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 135769614 135769614 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known splice_site c.1441-1 e9-1 1.000 - - - no_errors AHI1 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105413636 105413636 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105413636 105413636 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.8152 p.E2718Q 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AHRR 57491 genome.wustl.edu 37 5 428077 428077 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 428077 428077 G C SNP AHRR ENST00000316418 human ensembl 70_37 +1 known silent c.930 p.L310 0.721 NULL pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors AHRR HGNC AHSA1 10598 genome.wustl.edu 37 14 77929015 77929015 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 77929015 77929015 G A SNP AHSA1 ENST00000216479 human ensembl 70_37 +1 known missense c.385 p.D129N 1.000 pfam_AHSA1_N,superfamily_AHSA1_N pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC AIFM3 150209 genome.wustl.edu 37 22 21327625 21327625 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21327625 21327625 G T SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known nonsense c.61 p.E21* 0.972 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC AIFM3 150209 genome.wustl.edu 37 22 21327739 21327739 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21327739 21327739 C T SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known missense c.175 p.H59Y 0.225 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC AIRE 326 genome.wustl.edu 37 21 45709596 45709596 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 45709596 45709596 G A SNP AIRE ENST00000291582 human ensembl 70_37 +1 known missense c.709 p.E237K 0.448 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom,prints_AIRE pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC AK8 158067 genome.wustl.edu 37 9 135702440 135702440 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 135702440 135702440 C G SNP AK8 ENST00000298545 human ensembl 70_37 -1 known missense c.558 p.E186D 1.000 pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC AKAP11 11215 genome.wustl.edu 37 13 42877194 42877194 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 42877194 42877194 C G SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known missense c.4312 p.Q1438E 0.001 NULL NULL - no_errors AKAP11 HGNC AKAP13 11214 genome.wustl.edu 37 15 86064769 86064769 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 86064769 86064769 G T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.144 p.R48 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKNA 80709 genome.wustl.edu 37 9 117103902 117103902 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 117103902 117103902 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known nonsense c.3978 p.W1326* 1.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC AKR1CL1 340811 genome.wustl.edu 37 10 5227083 5227083 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 5227083 5227083 C G SNP AKR1CL1 ENST00000472691 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AKR1CL1 HGNC AKTIP 64400 genome.wustl.edu 37 16 53526658 53526658 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53526658 53526658 G C SNP AKTIP ENST00000300245 human ensembl 70_37 -1 known missense c.718 p.P240A 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC AKTIP 64400 genome.wustl.edu 37 16 53528490 53528490 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53528490 53528490 G A SNP AKTIP ENST00000300245 human ensembl 70_37 -1 known missense c.442 p.H148Y 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ALDH18A1 5832 genome.wustl.edu 37 10 97396862 97396862 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 97396862 97396862 G A SNP ALDH18A1 ENST00000371224 human ensembl 70_37 -1 known silent c.546 p.I182 1.000 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ALDH1B1 219 genome.wustl.edu 37 9 38395833 38395833 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 38395833 38395833 C G SNP ALDH1B1 ENST00000377698 human ensembl 70_37 +1 known missense c.88 p.L30V 0.003 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ALDH3B2 222 genome.wustl.edu 37 11 67434463 67434463 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 67434463 67434463 C G SNP ALDH3B2 ENST00000531881 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ALDH3B2 HGNC ALDOA 226 genome.wustl.edu 37 16 30077131 30077131 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30077131 30077131 C G SNP ALDOA ENST00000566012 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors ALDOA HGNC ALDOA 226 genome.wustl.edu 37 16 30081343 30081343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30081343 30081343 G C SNP ALDOA ENST00000338110 human ensembl 70_37 +1 known missense c.992 p.R331P 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ALDOA 226 genome.wustl.edu 37 16 30081399 30081399 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30081399 30081399 G A SNP ALDOA ENST00000569798 human ensembl 70_37 +1 novel missense c.1048 p.E350K 0.000 NULL pfam_Aldolase_I - no_errors ALDOA HGNC ALG1 56052 genome.wustl.edu 37 16 5125483 5125483 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 5125483 5125483 C A SNP ALG1 ENST00000262374 human ensembl 70_37 +1 known missense c.485 p.S162Y 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ALG6 29929 genome.wustl.edu 37 1 63894748 63894748 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 63894748 63894748 G A SNP ALG6 ENST00000263440 human ensembl 70_37 +1 known missense c.1283 p.R428K 0.638 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ALG6 29929 genome.wustl.edu 37 1 63894749 63894749 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 63894749 63894749 G A SNP ALG6 ENST00000263440 human ensembl 70_37 +1 known silent c.1284 p.R428 0.619 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ALK 238 genome.wustl.edu 37 2 29543716 29543716 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 29543716 29543716 C G SNP ALK ENST00000389048 human ensembl 70_37 -1 known missense c.1447 p.E483Q 0.422 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ALKBH3 221120 genome.wustl.edu 37 11 43911305 43911305 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 43911305 43911305 G A SNP ALKBH3 ENST00000302708 human ensembl 70_37 +1 known silent c.297 p.V99 0.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ALLC 55821 genome.wustl.edu 37 2 3727551 3727551 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 3727551 3727551 C G SNP ALLC ENST00000252505 human ensembl 70_37 +1 known missense c.265 p.R89G 0.990 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ALOX12P2 245 genome.wustl.edu 37 17 6797684 6797684 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 6797684 6797684 G A SNP ALOX12P2 ENST00000570835 human ensembl 70_37 +1 known rna NULL NULL 0.659 - - - no_errors ALOX12P2 HGNC ALPK3 57538 genome.wustl.edu 37 15 85383373 85383373 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 85383373 85383373 G A SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known missense c.1469 p.G490E 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ALPK3 57538 genome.wustl.edu 37 15 85401610 85401610 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 85401610 85401610 C G SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known missense c.4247 p.S1416C 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ALPP 250 genome.wustl.edu 37 2 233245707 233245707 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 233245707 233245707 C G SNP ALPP ENST00000392027 human ensembl 70_37 +1 known missense c.1158 p.F386L 0.999 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC AMD1 262 genome.wustl.edu 37 6 111211456 111211456 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 111211456 111211456 G C SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known splice_site c.325-1 e4-1 1.000 - - - no_errors AMD1 HGNC AMDHD1 144193 genome.wustl.edu 37 12 96356187 96356187 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 96356187 96356187 G A SNP AMDHD1 ENST00000266736 human ensembl 70_37 +1 known missense c.868 p.E290K 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC AMHR2 269 genome.wustl.edu 37 12 53823407 53823407 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53823407 53823407 G T SNP AMHR2 ENST00000257863 human ensembl 70_37 +1 known nonsense c.1138 p.E380* 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,pirsf_Anti-muellerian_hrmn_rcpt_II,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,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom - no_errors AMHR2 HGNC AMIGO3 386724 genome.wustl.edu 37 3 49756377 49756377 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49756377 49756377 G C SNP AMIGO3 ENST00000320431 human ensembl 70_37 -1 known missense c.522 p.F174L 0.988 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AMIGO3 HGNC AMOTL2 51421 genome.wustl.edu 37 3 134085242 134085242 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 134085242 134085242 C T SNP AMOTL2 ENST00000249883 human ensembl 70_37 -1 known missense c.1069 p.E357K 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC AMPD1 270 genome.wustl.edu 37 1 115220031 115220031 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 115220031 115220031 G C SNP AMPD1 ENST00000520113 human ensembl 70_37 -1 known missense c.1428 p.F476L 0.995 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ANK2 287 genome.wustl.edu 37 4 114117523 114117523 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 114117523 114117523 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known splice_site c.187-1 e3-1 1.000 - - - no_errors ANK2 HGNC ANK2 287 genome.wustl.edu 37 4 114278343 114278343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 114278343 114278343 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.8569 p.E2857Q 0.731 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ANK3 288 genome.wustl.edu 37 10 61802484 61802484 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 61802484 61802484 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.13099 p.E4367Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANK3 288 genome.wustl.edu 37 10 61834248 61834248 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 61834248 61834248 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.6391 p.E2131Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANKFN1 162282 genome.wustl.edu 37 17 54543853 54543853 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 54543853 54543853 C G SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known nonsense c.1703 p.S568* 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139884447 139884447 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 139884447 139884447 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known nonsense c.3046 p.Q1016* 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKRD26 22852 genome.wustl.edu 37 10 27301906 27301906 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 27301906 27301906 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.4906 p.D1636N 0.000 pfam_DUF3496 pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ANKRD44 91526 genome.wustl.edu 37 2 197943531 197943531 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 197943531 197943531 C G SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.1471 p.E491Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ANKRD54 129138 genome.wustl.edu 37 22 38227805 38227805 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 38227805 38227805 C T SNP ANKRD54 ENST00000498417 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD54 HGNC ANKRD62P1-PARP4P3 23783 genome.wustl.edu 37 22 17156394 17156394 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17156394 17156394 G C SNP ANKRD62P1-PARP4P3 ENST00000338526 human ensembl 70_37 -1 known rna NULL NULL 0.907 - - - no_errors ANKRD62P1-PARP4P3 HGNC ANKS3 124401 genome.wustl.edu 37 16 4750748 4750748 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4750748 4750748 G C SNP ANKS3 ENST00000450067 human ensembl 70_37 -1 known missense c.889 p.P297A 0.003 NULL NULL - no_errors ANKS3 HGNC ANO10 55129 genome.wustl.edu 37 3 43621890 43621890 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 43621890 43621890 C G SNP ANO10 ENST00000292246 human ensembl 70_37 -1 known missense c.547 p.E183Q 0.387 NULL pfam_Anoctamin - no_errors ANO10 HGNC ANO2 57101 genome.wustl.edu 37 12 5685071 5685071 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 5685071 5685071 G C SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known missense c.2553 p.F851L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC AOX1 316 genome.wustl.edu 37 2 201457893 201457893 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201457893 201457893 G A SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known missense c.70 p.E24K 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC AOX1 316 genome.wustl.edu 37 2 201531455 201531455 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201531455 201531455 C T SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known missense c.3589 p.P1197S 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC AOX2P 344454 genome.wustl.edu 37 2 201623719 201623719 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201623719 201623719 G A SNP AOX2P ENST00000470911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC AOX2P 344454 genome.wustl.edu 37 2 201623722 201623722 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201623722 201623722 G A SNP AOX2P ENST00000470911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC AP2A2 161 genome.wustl.edu 37 11 1008050 1008050 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1008050 1008050 G C SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.2338 p.E780Q 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC AP2B1 163 genome.wustl.edu 37 17 33951604 33951604 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33951604 33951604 G C SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.714 p.Q238H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC APAF1 317 genome.wustl.edu 37 12 99120964 99120964 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 99120964 99120964 C G SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known nonsense c.3470 p.S1157* 0.706 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC APCDD1 147495 genome.wustl.edu 37 18 10468599 10468599 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 10468599 10468599 G A SNP APCDD1 ENST00000355285 human ensembl 70_37 +1 known silent c.192 p.R64 0.982 NULL NULL - no_errors APCDD1 HGNC APOA1BP 128240 genome.wustl.edu 37 1 156563345 156563345 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156563345 156563345 C G SNP APOA1BP ENST00000368235 human ensembl 70_37 +1 known nonsense c.662 p.S221* 1.000 pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors APOA1BP HGNC APOB 338 genome.wustl.edu 37 2 21225910 21225910 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21225910 21225910 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.12384 p.V4128 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOB 338 genome.wustl.edu 37 2 21256266 21256266 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21256266 21256266 C A SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.1029 p.Q343H 0.992 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOBEC1 339 genome.wustl.edu 37 12 7802149 7802149 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 7802149 7802149 C T SNP APOBEC1 ENST00000229304 human ensembl 70_37 -1 known nonsense c.705 p.W235* 0.998 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC APOL6 80830 genome.wustl.edu 37 22 36055124 36055124 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 36055124 36055124 C T SNP APOL6 ENST00000409652 human ensembl 70_37 +1 known silent c.513 p.I171 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC AQP5 362 genome.wustl.edu 37 12 50357352 50357352 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 50357352 50357352 C T SNP AQP5 ENST00000293599 human ensembl 70_37 +1 known silent c.441 p.F147 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC AQR 9716 genome.wustl.edu 37 15 35159783 35159783 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 35159783 35159783 G A SNP AQR ENST00000156471 human ensembl 70_37 -1 known nonsense c.3796 p.Q1266* 1.000 NULL NULL - no_errors AQR HGNC ARF4 378 genome.wustl.edu 37 3 57582966 57582966 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 57582966 57582966 G C SNP ARF4 ENST00000489843 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARF4 HGNC ARFGEF1 10565 genome.wustl.edu 37 8 68139489 68139489 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 68139489 68139489 G C SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.3799 p.Q1267E 1.000 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ARFIP2 23647 genome.wustl.edu 37 11 6498963 6498963 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6498963 6498963 G A SNP ARFIP2 ENST00000254584 human ensembl 70_37 -1 known silent c.855 p.F285 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ARHGAP21 57584 genome.wustl.edu 37 10 24880833 24880833 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 24880833 24880833 C G SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.3985 p.E1329Q 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ARHGAP8 23779 genome.wustl.edu 37 22 45210624 45210624 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45210624 45210624 G A SNP ARHGAP8 ENST00000447333 human ensembl 70_37 +1 known missense c.433 p.E145K 1.000 NULL superfamily_CRAL-TRIO_dom - no_errors ARHGAP8 HGNC ARHGAP9 64333 genome.wustl.edu 37 12 57871325 57871325 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57871325 57871325 G T SNP ARHGAP9 ENST00000356411 human ensembl 70_37 -1 known missense c.673 p.P225T 0.996 superfamily_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156915901 156915901 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156915901 156915901 G C SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.2748 p.I916M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120328793 120328793 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 120328793 120328793 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.2173 p.D725N 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF16 27237 genome.wustl.edu 37 1 3392570 3392570 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 3392570 3392570 G C SNP ARHGEF16 ENST00000378378 human ensembl 70_37 +1 known missense c.1417 p.E473Q 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ARHGEF17 9828 genome.wustl.edu 37 11 73020642 73020642 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 73020642 73020642 C T SNP ARHGEF17 ENST00000263674 human ensembl 70_37 +1 known missense c.959 p.S320L 0.015 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ARHGEF38 54848 genome.wustl.edu 37 4 106580237 106580237 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 106580237 106580237 G A SNP ARHGEF38 ENST00000420470 human ensembl 70_37 +1 putative silent c.1260 p.L420 0.976 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ARHGEF38 54848 genome.wustl.edu 37 4 106598933 106598933 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 106598933 106598933 C G SNP ARHGEF38 ENST00000420470 human ensembl 70_37 +1 putative missense c.2173 p.Q725E 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ARHGEF9 23229 genome.wustl.edu 37 X 62885882 62885882 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 62885882 62885882 C G SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.940 p.D314H 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ARID1A 8289 genome.wustl.edu 37 1 27100297 27100297 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27100297 27100297 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.4009 p.D1337N 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID1B 57492 genome.wustl.edu 37 6 157502141 157502141 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 157502141 157502141 G A SNP ARID1B ENST00000367148 human ensembl 70_37 +1 known silent c.3294 p.T1098 0.344 superfamily_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ARID3A 1820 genome.wustl.edu 37 19 964428 964428 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 964428 964428 C G SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known missense c.947 p.T316S 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ARID3B 10620 genome.wustl.edu 37 15 74888066 74888066 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 74888066 74888066 C T SNP ARID3B ENST00000346246 human ensembl 70_37 +1 known missense c.1634 p.S545L 0.995 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ARID3B 10620 genome.wustl.edu 37 15 74890150 74890150 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 74890150 74890150 G A SNP ARID3B ENST00000563567 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors ARID3B HGNC ARIH2OS 646450 genome.wustl.edu 37 3 48955903 48955903 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48955903 48955903 G C SNP ARIH2OS ENST00000408959 human ensembl 70_37 -1 known missense c.680 p.S227W 0.000 NULL NULL - no_errors ARIH2OS HGNC ARIH2OS 646450 genome.wustl.edu 37 3 48956234 48956234 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48956234 48956234 G C SNP ARIH2OS ENST00000408959 human ensembl 70_37 -1 known missense c.349 p.R117G 0.778 NULL NULL - no_errors ARIH2OS HGNC ARL15 54622 genome.wustl.edu 37 5 53182187 53182187 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 53182187 53182187 C G SNP ARL15 ENST00000502271 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARL15 HGNC ARMC5 79798 genome.wustl.edu 37 16 31477187 31477187 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31477187 31477187 G C SNP ARMC5 ENST00000408912 human ensembl 70_37 +1 known missense c.2166 p.Q722H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ARMCX3 51566 genome.wustl.edu 37 X 100880767 100880767 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 100880767 100880767 C G SNP ARMCX3 ENST00000341189 human ensembl 70_37 +1 known silent c.798 p.L266 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ARMCX3 51566 genome.wustl.edu 37 X 100880829 100880829 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 100880829 100880829 C T SNP ARMCX3 ENST00000341189 human ensembl 70_37 +1 known missense c.860 p.S287F 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100744929 100744929 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 100744929 100744929 G C SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative missense c.1353 p.K451N 0.077 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ARRB2 409 genome.wustl.edu 37 17 4622635 4622635 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4622635 4622635 C G SNP ARRB2 ENST00000269260 human ensembl 70_37 +1 known silent c.837 p.L279 0.984 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB2 HGNC ART4 420 genome.wustl.edu 37 12 14993997 14993997 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 14993997 14993997 G C SNP ART4 ENST00000228936 human ensembl 70_37 -1 known missense c.235 p.Q79E 0.977 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ASB16 92591 genome.wustl.edu 37 17 42255079 42255079 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 42255079 42255079 G A SNP ASB16 ENST00000293414 human ensembl 70_37 +1 known missense c.1165 p.E389K 0.994 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB16 HGNC ASB2 51676 genome.wustl.edu 37 14 94405904 94405904 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 94405904 94405904 C T SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known silent c.1023 p.L341 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ASIC4 55515 genome.wustl.edu 37 2 220397701 220397701 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220397701 220397701 C G SNP ASIC4 ENST00000473709 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ASIC4 HGNC ASL 435 genome.wustl.edu 37 7 65551611 65551611 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65551611 65551611 G C SNP ASL ENST00000304874 human ensembl 70_37 +1 known missense c.486 p.Q162H 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ASPH 444 genome.wustl.edu 37 8 62465592 62465592 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 62465592 62465592 C G SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.1624 p.E542Q 1.000 NULL pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ATAD3C 219293 genome.wustl.edu 37 1 1398013 1398013 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1398013 1398013 G A SNP ATAD3C ENST00000378785 human ensembl 70_37 +1 known silent c.1014 p.R338 0.999 NULL pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors ATAD3C HGNC ATE1 11101 genome.wustl.edu 37 10 123549562 123549562 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 123549562 123549562 C G SNP ATE1 ENST00000470613 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ATE1 HGNC ATG2A 23130 genome.wustl.edu 37 11 64676516 64676516 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64676516 64676516 C T SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known missense c.2311 p.E771K 0.653 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ATG2A 23130 genome.wustl.edu 37 11 64677261 64677261 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64677261 64677261 C T SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known missense c.1999 p.E667K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ATG2A 23130 genome.wustl.edu 37 11 64679412 64679412 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64679412 64679412 G T SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known nonsense c.1130 p.S377* 0.963 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ATM 472 genome.wustl.edu 37 11 108129735 108129735 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 108129735 108129735 C T SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.2399 p.S800F 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ATP13A2 23400 genome.wustl.edu 37 1 17312722 17312722 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17312722 17312722 C G SNP ATP13A2 ENST00000341676 human ensembl 70_37 -1 known missense c.3235 p.E1079Q 0.830 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ATP13A2 23400 genome.wustl.edu 37 1 17322357 17322357 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17322357 17322357 G C SNP ATP13A2 ENST00000502860 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors ATP13A2 HGNC ATP13A4 84239 genome.wustl.edu 37 3 193174915 193174915 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 193174915 193174915 G A SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.1789 p.H597Y 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ATP2A2 488 genome.wustl.edu 37 12 110782767 110782767 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 110782767 110782767 C G SNP ATP2A2 ENST00000539276 human ensembl 70_37 +1 known missense c.2598 p.F866L 1.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A2 HGNC ATP2B3 492 genome.wustl.edu 37 X 152807332 152807332 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 152807332 152807332 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.612 p.L204 0.617 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ATP5J 522 genome.wustl.edu 37 21 27090013 27090013 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 27090013 27090013 G C SNP ATP5J ENST00000400099 human ensembl 70_37 -1 putative missense c.348 p.I116M 0.205 NULL pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt - no_errors ATP5J HGNC ATP6V0B 533 genome.wustl.edu 37 1 44441391 44441391 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44441391 44441391 C G SNP ATP6V0B ENST00000461670 human ensembl 70_37 +1 known nonsense c.122 p.S41* 0.001 NULL NULL - no_errors ATP6V0B HGNC ATP6V1A 523 genome.wustl.edu 37 3 113507617 113507617 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113507617 113507617 G A SNP ATP6V1A ENST00000273398 human ensembl 70_37 +1 known silent c.774 p.V258 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ATP7B 540 genome.wustl.edu 37 13 52548826 52548826 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 52548826 52548826 G C SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known nonsense c.530 p.S177* 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ATP8B2 57198 genome.wustl.edu 37 1 154306644 154306644 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 154306644 154306644 G A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known nonsense c.750 p.W250* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ATP8B5P 158381 genome.wustl.edu 37 9 35473766 35473766 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 35473766 35473766 G C SNP ATP8B5P ENST00000329395 human ensembl 70_37 +1 known rna NULL NULL 0.685 - - - no_errors ATP8B5P HGNC ATR 545 genome.wustl.edu 37 3 142189021 142189021 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142189021 142189021 G C SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.6226 p.L2076V 0.995 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ATRAID 51374 genome.wustl.edu 37 2 27435216 27435216 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27435216 27435216 G A SNP ATRAID ENST00000380171 human ensembl 70_37 +1 known missense c.145 p.G49R 0.000 NULL pfscan_EG-like_dom - no_errors ATRAID HGNC ATRN 8455 genome.wustl.edu 37 20 3452162 3452162 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3452162 3452162 C T SNP ATRN ENST00000262919 human ensembl 70_37 +1 known silent c.408 p.F136 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ATXN1 6310 genome.wustl.edu 37 6 16328526 16328526 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 16328526 16328526 C G SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.16 p.E6Q 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ATXN2 6311 genome.wustl.edu 37 12 111893951 111893951 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 111893951 111893951 G C SNP ATXN2 ENST00000377617 human ensembl 70_37 -1 known missense c.3626 p.S1209C 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC AVIL 10677 genome.wustl.edu 37 12 58204681 58204681 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 58204681 58204681 C G SNP AVIL ENST00000257861 human ensembl 70_37 -1 known missense c.476 p.R159P 0.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors AVIL HGNC B4GALT3 8703 genome.wustl.edu 37 1 161141164 161141164 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 161141164 161141164 G A SNP B4GALT3 ENST00000470882 human ensembl 70_37 -1 known rna NULL NULL 0.641 - - - no_errors B4GALT3 HGNC B4GALT5 9334 genome.wustl.edu 37 20 48260132 48260132 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 48260132 48260132 G C SNP B4GALT5 ENST00000371711 human ensembl 70_37 -1 known silent c.420 p.L140 0.937 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC BAG1 573 genome.wustl.edu 37 9 33262125 33262125 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 33262125 33262125 G C SNP BAG1 ENST00000379707 human ensembl 70_37 -1 known missense c.355 p.H119D 0.000 NULL NULL - no_errors BAG1 HGNC BAG5 9529 genome.wustl.edu 37 14 104026644 104026644 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 104026644 104026644 C T SNP BAG5 ENST00000337322 human ensembl 70_37 -1 known missense c.981 p.M327I 1.000 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC BAGE2 85319 genome.wustl.edu 37 21 11038739 11038739 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 11038739 11038739 G C SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors BAGE2 HGNC BAHCC1 57597 genome.wustl.edu 37 17 79409042 79409042 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79409042 79409042 G C SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.667 p.E223Q 0.720 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC BAHCC1 57597 genome.wustl.edu 37 17 79423343 79423343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79423343 79423343 G C SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.4590 p.K1530N 0.959 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC BAI2 576 genome.wustl.edu 37 1 32203073 32203073 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 32203073 32203073 G C SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.2936 p.S979C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1392548 1392548 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1392548 1392548 C T SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known silent c.1083 p.V361 0.002 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BANP 54971 genome.wustl.edu 37 16 88104768 88104768 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88104768 88104768 G A SNP BANP ENST00000481948 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors BANP HGNC BARD1 580 genome.wustl.edu 37 2 215646072 215646072 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215646072 215646072 G A SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known nonsense c.526 p.Q176* 0.000 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC BATF3 55509 genome.wustl.edu 37 1 212860190 212860190 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 212860190 212860190 C G SNP BATF3 ENST00000243440 human ensembl 70_37 -1 known missense c.327 p.M109I 0.997 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF3 HGNC BBS7 55212 genome.wustl.edu 37 4 122749661 122749661 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 122749661 122749661 C G SNP BBS7 ENST00000264499 human ensembl 70_37 -1 known splice_site c.1787-1 e17-1 1.000 - - - no_errors BBS7 HGNC BCAR3 8412 genome.wustl.edu 37 1 94032962 94032962 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94032962 94032962 C T SNP BCAR3 ENST00000260502 human ensembl 70_37 -1 known missense c.2173 p.E725K 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC BCAR4 400500 genome.wustl.edu 37 16 11913897 11913897 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11913897 11913897 G C SNP BCAR4 ENST00000571158 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BCAR4 HGNC BCL6 604 genome.wustl.edu 37 3 187447542 187447542 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 187447542 187447542 C T SNP BCL6 ENST00000232014 human ensembl 70_37 -1 known silent c.651 p.R217 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC BCL9L 283149 genome.wustl.edu 37 11 118769063 118769063 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118769063 118769063 G C SNP BCL9L ENST00000526143 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BCL9L HGNC BCLAF1 9774 genome.wustl.edu 37 6 136597237 136597237 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 136597237 136597237 C G SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.1426 p.D476H 1.000 NULL NULL - no_errors BCLAF1 HGNC BCOR 54880 genome.wustl.edu 37 X 39937175 39937175 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 39937175 39937175 G C SNP BCOR ENST00000378444 human ensembl 70_37 -1 known nonsense c.8 p.S3* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BCORL1 63035 genome.wustl.edu 37 X 129173217 129173217 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 129173217 129173217 G A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.4800 p.M1600I 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC BDH1 622 genome.wustl.edu 37 3 197239047 197239047 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197239047 197239047 C T SNP BDH1 ENST00000358186 human ensembl 70_37 -1 known missense c.751 p.E251K 0.994 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC BEGAIN 57596 genome.wustl.edu 37 14 101012896 101012896 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101012896 101012896 C T SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.118 p.E40K 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors BEGAIN HGNC BEND3 57673 genome.wustl.edu 37 6 107419757 107419757 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 107419757 107419757 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.238 p.E80K 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC BEND7 222389 genome.wustl.edu 37 10 13534813 13534813 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 13534813 13534813 G C SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known nonsense c.635 p.S212* 0.998 NULL pfam_BEN_domain - no_errors BEND7 HGNC BEND7 222389 genome.wustl.edu 37 10 13538864 13538864 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 13538864 13538864 G A SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known missense c.473 p.S158L 0.772 NULL pfam_BEN_domain - no_errors BEND7 HGNC BEST3 144453 genome.wustl.edu 37 12 70049417 70049417 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 70049417 70049417 C A SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known missense c.1277 p.R426L 0.020 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC BFAR 51283 genome.wustl.edu 37 16 14761513 14761513 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 14761513 14761513 G C SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.1182 p.W394C 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC BIN1 274 genome.wustl.edu 37 2 127809887 127809887 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 127809887 127809887 C G SNP BIN1 ENST00000316724 human ensembl 70_37 -1 known missense c.1315 p.E439Q 0.969 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC BIRC3 330 genome.wustl.edu 37 11 102195673 102195673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 102195673 102195673 C G SNP BIRC3 ENST00000263464 human ensembl 70_37 +1 known missense c.433 p.P145A 0.207 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC BIRC6 57448 genome.wustl.edu 37 2 32605237 32605237 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 32605237 32605237 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.524 p.S175L 1.000 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC BIRC6 57448 genome.wustl.edu 37 2 32605301 32605301 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 32605301 32605301 C G SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known silent c.588 p.L196 0.995 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC BLM 641 genome.wustl.edu 37 15 91295145 91295146 + Frame_Shift_Ins INS - - G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91295145 91295146 - G INS BLM ENST00000355112 human ensembl 70_37 +1 known frame_shift_ins c.928_929 p.S310fs 0.060:0.064 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC BLM 641 genome.wustl.edu 37 15 91295146 91295146 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91295146 91295146 C G SNP BLM ENST00000355112 human ensembl 70_37 +1 known missense c.929 p.S310C 0.064 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC BLNK 29760 genome.wustl.edu 37 10 97983584 97983584 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 97983584 97983584 C G SNP BLNK ENST00000224337 human ensembl 70_37 -1 known missense c.523 p.E175Q 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC BLVRA 644 genome.wustl.edu 37 7 43843292 43843292 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 43843292 43843292 G C SNP BLVRA ENST00000265523 human ensembl 70_37 +1 known missense c.478 p.E160Q 1.000 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC BMP10 27302 genome.wustl.edu 37 2 69093120 69093120 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 69093120 69093120 G A SNP BMP10 ENST00000295379 human ensembl 70_37 -1 known silent c.918 p.I306 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC BMP15 9210 genome.wustl.edu 37 X 50653862 50653862 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 50653862 50653862 G C SNP BMP15 ENST00000252677 human ensembl 70_37 +1 known missense c.79 p.E27Q 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC BMP2K 55589 genome.wustl.edu 37 4 79772146 79772146 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79772146 79772146 C T SNP BMP2K ENST00000335016 human ensembl 70_37 +1 known silent c.819 p.I273 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC BMX 660 genome.wustl.edu 37 X 15555355 15555355 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 15555355 15555355 G A SNP BMX ENST00000342014 human ensembl 70_37 +1 known missense c.1321 p.D441N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC BNC2 54796 genome.wustl.edu 37 9 16436226 16436226 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 16436226 16436226 C T SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.1966 p.E656K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC BNIP3 664 genome.wustl.edu 37 10 133784238 133784238 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 133784238 133784238 G C SNP BNIP3 ENST00000368636 human ensembl 70_37 -1 known missense c.443 p.T148R 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13602970 13602970 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 13602970 13602970 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.5554 p.E1852K 1.000 NULL NULL - no_errors BOD1L1 HGNC BPTF 2186 genome.wustl.edu 37 17 65850325 65850325 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 65850325 65850325 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.883 p.L295V 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC BRD2 6046 genome.wustl.edu 37 6 32942501 32942501 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 32942501 32942501 C T SNP BRD2 ENST00000395289 human ensembl 70_37 +1 known missense c.292 p.P98S 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC BRD4 23476 genome.wustl.edu 37 19 15349236 15349236 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15349236 15349236 C T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.4041 p.M1347I 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC BRI3 25798 genome.wustl.edu 37 7 97920828 97920828 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 97920828 97920828 C T SNP BRI3 ENST00000456357 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BRI3 HGNC BRIP1 83990 genome.wustl.edu 37 17 59760950 59760950 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 59760950 59760950 C G SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.3457 p.D1153H 0.056 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC BRPF1 7862 genome.wustl.edu 37 3 9783090 9783090 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9783090 9783090 G C SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.1821 p.L607F 1.000 superfamily_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC BSG 682 genome.wustl.edu 37 19 580678 580678 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 580678 580678 G C SNP BSG ENST00000333511 human ensembl 70_37 +1 known missense c.688 p.E230Q 0.985 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC BSG 682 genome.wustl.edu 37 19 581522 581522 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 581522 581522 G A SNP BSG ENST00000333511 human ensembl 70_37 +1 known missense c.1000 p.E334K 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC BSN 8927 genome.wustl.edu 37 3 49700629 49700629 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49700629 49700629 C A SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.11038 p.R3680 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BST2 684 genome.wustl.edu 37 19 17514607 17514607 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17514607 17514607 C T SNP BST2 ENST00000252593 human ensembl 70_37 -1 known missense c.440 p.R147K 0.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors BST2 HGNC BTLA 151888 genome.wustl.edu 37 3 112185007 112185007 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 112185007 112185007 C T SNP BTLA ENST00000334529 human ensembl 70_37 -1 known missense c.818 p.R273K 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors BTLA HGNC BTN3A2 11118 genome.wustl.edu 37 6 26373523 26373523 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26373523 26373523 C T SNP BTN3A2 ENST00000356386 human ensembl 70_37 +1 known silent c.936 p.L312 0.958 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors BTN3A2 HGNC BTN3A3 10384 genome.wustl.edu 37 6 26444434 26444434 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26444434 26444434 G A SNP BTN3A3 ENST00000244519 human ensembl 70_37 +1 known missense c.335 p.R112Q 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC BZRAP1 9256 genome.wustl.edu 37 17 56393399 56393399 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56393399 56393399 C G SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known missense c.2083 p.D695H 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC C10orf68 79741 genome.wustl.edu 37 10 32872048 32872048 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 32872048 32872048 C G SNP C10orf68 ENST00000572165 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors C10orf68 HGNC C10orf82 143379 genome.wustl.edu 37 10 118423748 118423748 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 118423748 118423748 G A SNP C10orf82 ENST00000588184 human ensembl 70_37 -1 known missense c.496 p.P166S 0.022 NULL NULL - no_errors C10orf82 HGNC C11orf57 55216 genome.wustl.edu 37 11 111953676 111953676 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 111953676 111953676 G C SNP C11orf57 ENST00000393047 human ensembl 70_37 +1 known missense c.862 p.E288Q 1.000 NULL NULL - no_errors C11orf57 HGNC C11orf63 79864 genome.wustl.edu 37 11 122756799 122756799 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 122756799 122756799 G A SNP C11orf63 ENST00000227349 human ensembl 70_37 +1 known missense c.242 p.R81Q 0.000 NULL NULL - no_errors C11orf63 HGNC C12orf55 144535 genome.wustl.edu 37 12 97147670 97147670 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 97147670 97147670 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.3109 p.Q1037E 1.000 NULL NULL - no_errors C12orf55 HGNC C12orf56 115749 genome.wustl.edu 37 12 64712509 64712509 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 64712509 64712509 C G SNP C12orf56 ENST00000543942 human ensembl 70_37 -1 putative missense c.740 p.G247A 0.181 NULL NULL - no_errors C12orf56 HGNC C12orf60 144608 genome.wustl.edu 37 12 14975933 14975933 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 14975933 14975933 C T SNP C12orf60 ENST00000330828 human ensembl 70_37 +1 known missense c.64 p.H22Y 0.008 NULL NULL - no_errors C12orf60 HGNC C14orf169 79697 genome.wustl.edu 37 14 73957911 73957911 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 73957911 73957911 G C SNP C14orf169 ENST00000531973 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C14orf169 HGNC C14orf80 283643 genome.wustl.edu 37 14 105963729 105963729 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105963729 105963729 G A SNP C14orf80 ENST00000392523 human ensembl 70_37 +1 known silent c.927 p.L309 0.942 NULL NULL - no_errors C14orf80 HGNC C15orf52 388115 genome.wustl.edu 37 15 40627575 40627575 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 40627575 40627575 C G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.1389 p.W463C 0.000 NULL NULL - no_errors C15orf52 HGNC C15orf52 388115 genome.wustl.edu 37 15 40627604 40627604 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 40627604 40627604 C G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.1360 p.E454Q 0.000 NULL NULL - no_errors C15orf52 HGNC C16orf13 84326 genome.wustl.edu 37 16 684553 684553 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 684553 684553 G C SNP C16orf13 ENST00000397666 human ensembl 70_37 -1 known silent c.591 p.L197 0.000 NULL pfam_DUF938 - no_errors C16orf13 HGNC C16orf95 100506581 genome.wustl.edu 37 16 87336584 87336584 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 87336584 87336584 C T SNP C16orf95 ENST00000564821 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors C16orf95 HGNC C1QTNF6 114904 genome.wustl.edu 37 22 37581393 37581393 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 37581393 37581393 C G SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known missense c.154 p.V52L 0.013 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC C1orf116 79098 genome.wustl.edu 37 1 207200937 207200937 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 207200937 207200937 C T SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.7 p.E3K 0.926 NULL NULL - no_errors C1orf116 HGNC C1orf159 54991 genome.wustl.edu 37 1 1018229 1018229 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1018229 1018229 C T SNP C1orf159 ENST00000464905 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf159 HGNC C1orf170 84808 genome.wustl.edu 37 1 915302 915302 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 915302 915302 C T SNP C1orf170 ENST00000433179 human ensembl 70_37 -1 known missense c.826 p.D276N 0.087 NULL NULL - no_errors C1orf170 HGNC SMIM12 113444 genome.wustl.edu 37 1 35321430 35321430 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 35321430 35321430 G C SNP C1orf212 ENST00000417239 human ensembl 70_37 -1 known nonsense c.149 p.S50* 0.910 NULL NULL - no_errors C1orf212 HGNC C1orf222 85452 genome.wustl.edu 37 1 1896478 1896478 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1896478 1896478 C T SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1424 p.R475Q 0.018 NULL NULL - no_errors C1orf222 HGNC C1orf222 85452 genome.wustl.edu 37 1 1916830 1916830 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1916830 1916830 C G SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.495 p.E165D 0.044 NULL NULL - no_errors C1orf222 HGNC C1orf228 339541 genome.wustl.edu 37 1 45163817 45163817 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45163817 45163817 G A SNP C1orf228 ENST00000458657 human ensembl 70_37 +1 known missense c.358 p.E120K 0.988 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf228 HGNC C1orf35 79169 genome.wustl.edu 37 1 228289607 228289607 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 228289607 228289607 G C SNP C1orf35 ENST00000469781 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf35 HGNC C1orf86 199990 genome.wustl.edu 37 1 2125597 2125598 + RNA DEL AG AG - TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2125597 2125598 AG - DEL C1orf86 ENST00000476803 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors C1orf86 HGNC C1orf86 199990 genome.wustl.edu 37 1 2129633 2129633 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2129633 2129633 G C SNP C1orf86 ENST00000401813 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf86 HGNC C20orf24 55969 genome.wustl.edu 37 20 35238065 35238065 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 35238065 35238065 G A SNP C20orf24 ENST00000373852 human ensembl 70_37 +1 known missense c.280 p.E94K 1.000 NULL NULL - no_errors C20orf24 HGNC C20orf27 54976 genome.wustl.edu 37 20 3736209 3736209 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3736209 3736209 G C SNP C20orf27 ENST00000217195 human ensembl 70_37 -1 known missense c.283 p.L95V 0.998 NULL NULL - no_errors C20orf27 HGNC C20orf62 140834 genome.wustl.edu 37 20 43090648 43090648 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 43090648 43090648 C T SNP C20orf62 ENST00000372910 human ensembl 70_37 -1 putative silent c.390 p.L130 0.008 NULL NULL - no_errors C20orf62 HGNC MGME1 92667 genome.wustl.edu 37 20 17950958 17950958 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 17950958 17950958 G A SNP C20orf72 ENST00000377710 human ensembl 70_37 +1 known nonsense c.456 p.W152* 1.000 NULL superfamily_Restrct_endonuc-II-like - no_errors C20orf72 HGNC C2CD2L 9854 genome.wustl.edu 37 11 118984878 118984878 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118984878 118984878 G A SNP C2CD2L ENST00000336702 human ensembl 70_37 +1 known missense c.1715 p.G572E 0.311 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2L HGNC C2CD3 26005 genome.wustl.edu 37 11 73814626 73814626 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 73814626 73814626 G C SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.2130 p.I710M 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C2orf68 388969 genome.wustl.edu 37 2 85838864 85838864 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 85838864 85838864 C G SNP C2orf68 ENST00000306336 human ensembl 70_37 -1 known silent c.153 p.V51 0.991 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC C3 718 genome.wustl.edu 37 19 6707916 6707916 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6707916 6707916 C G SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.1870 p.D624H 0.999 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC C3orf17 25871 genome.wustl.edu 37 3 112724777 112724777 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 112724777 112724777 G C SNP C3orf17 ENST00000314400 human ensembl 70_37 -1 known nonsense c.1310 p.S437* 1.000 NULL NULL - no_errors C3orf17 HGNC C3orf20 84077 genome.wustl.edu 37 3 14731503 14731503 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 14731503 14731503 G C SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known splice_site c.626-1 e3-1 0.553 - - - no_errors C3orf20 HGNC C3orf35 339883 genome.wustl.edu 37 3 37458809 37458809 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 37458809 37458809 G C SNP C3orf35 ENST00000328376 human ensembl 70_37 +1 known missense c.52 p.E18Q 0.405 NULL NULL - no_errors C3orf35 HGNC C3orf58 205428 genome.wustl.edu 37 3 143691757 143691757 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 143691757 143691757 C T SNP C3orf58 ENST00000315691 human ensembl 70_37 +1 known missense c.583 p.R195C 1.000 NULL NULL - no_errors C3orf58 HGNC C4orf21 55345 genome.wustl.edu 37 4 113483555 113483555 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 113483555 113483555 G C SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.4669 p.L1557V 0.968 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C4orf21 55345 genome.wustl.edu 37 4 113508633 113508633 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 113508633 113508633 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.3580 p.E1194Q 0.004 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C5AR1 728 genome.wustl.edu 37 19 47823375 47823375 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 47823375 47823375 C T SNP C5AR1 ENST00000355085 human ensembl 70_37 +1 known missense c.341 p.S114F 0.850 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt - no_errors C5AR1 HGNC C5orf42 65250 genome.wustl.edu 37 5 37183701 37183701 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37183701 37183701 C T SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.4582 p.E1528K 0.391 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C6orf132 647024 genome.wustl.edu 37 6 42074647 42074647 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 42074647 42074647 G A SNP C6orf132 ENST00000341865 human ensembl 70_37 -1 putative missense c.1003 p.P335S 0.047 NULL NULL - no_errors C6orf132 HGNC C6orf223 221416 genome.wustl.edu 37 6 43970504 43970504 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43970504 43970504 G C SNP C6orf223 ENST00000336600 human ensembl 70_37 +1 known missense c.370 p.A124P 0.161 NULL NULL - no_errors C6orf223 HGNC C7 730 genome.wustl.edu 37 5 40947764 40947764 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 40947764 40947764 C G SNP C7 ENST00000313164 human ensembl 70_37 +1 known missense c.799 p.P267A 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC C7orf66 154907 genome.wustl.edu 37 7 108524529 108524529 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 108524529 108524529 G A SNP C7orf66 ENST00000379007 human ensembl 70_37 -1 putative missense c.61 p.H21Y 0.221 NULL NULL - no_errors C7orf66 HGNC C8G 733 genome.wustl.edu 37 9 139840540 139840540 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 139840540 139840540 G T SNP C8G ENST00000224181 human ensembl 70_37 +1 known missense c.350 p.R117L 0.292 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC C8orf46 254778 genome.wustl.edu 37 8 67428146 67428146 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 67428146 67428146 G C SNP C8orf46 ENST00000305454 human ensembl 70_37 +1 known missense c.459 p.K153N 0.990 NULL NULL - no_errors C8orf46 HGNC C9orf114 51490 genome.wustl.edu 37 9 131586097 131586097 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131586097 131586097 C T SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known missense c.991 p.E331K 0.994 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC C9orf16 79095 genome.wustl.edu 37 9 130922669 130922669 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130922669 130922669 C T SNP C9orf16 ENST00000489240 human ensembl 70_37 +1 known rna NULL NULL 0.171 - - - no_errors C9orf16 HGNC C9orf3 84909 genome.wustl.edu 37 9 97686290 97686290 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 97686290 97686290 C T SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known nonsense c.1387 p.Q463* 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC C9orf50 375759 genome.wustl.edu 37 9 132375857 132375857 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 132375857 132375857 C T SNP C9orf50 ENST00000372478 human ensembl 70_37 -1 known silent c.900 p.V300 0.000 NULL NULL - no_errors C9orf50 HGNC CA6 765 genome.wustl.edu 37 1 9034807 9034807 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 9034807 9034807 G A SNP CA6 ENST00000476083 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CA6 HGNC CACNA1A 773 genome.wustl.edu 37 19 13616813 13616813 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 13616813 13616813 G A SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.226 p.R76W 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC CACNA1B 774 genome.wustl.edu 37 9 140777216 140777216 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140777216 140777216 C G SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.411 p.F137L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CACNA1C-AS1 100652846 genome.wustl.edu 37 12 2787058 2787058 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 2787058 2787058 C G SNP CACNA1C-AS1 ENST00000501371 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA1C-AS1 HGNC CACNA1G 8913 genome.wustl.edu 37 17 48655898 48655898 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48655898 48655898 C A SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known silent c.2274 p.L758 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC CACNA1G 8913 genome.wustl.edu 37 17 48685357 48685357 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48685357 48685357 G A SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known missense c.4682 p.R1561Q 0.021 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC CACNA1H 8912 genome.wustl.edu 37 16 1270951 1270951 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1270951 1270951 C G SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known nonsense c.7019 p.S2340* 0.394 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CACNA2D2 9254 genome.wustl.edu 37 3 50412211 50412211 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 50412211 50412211 G A SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known silent c.1941 p.F647 1.000 pfam_VDCC_a2/dsu pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC CACNA2D4 93589 genome.wustl.edu 37 12 1910285 1910285 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 1910285 1910285 C T SNP CACNA2D4 ENST00000382722 human ensembl 70_37 -1 known splice_site c.2793-1 e31-1 1.000 - - - no_errors CACNA2D4 HGNC CACNB2 783 genome.wustl.edu 37 10 18828165 18828165 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 18828165 18828165 C G SNP CACNB2 ENST00000324631 human ensembl 70_37 +1 known missense c.1495 p.Q499E 1.000 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC CALCB 797 genome.wustl.edu 37 11 15098849 15098849 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 15098849 15098849 G C SNP CALCB ENST00000324229 human ensembl 70_37 +1 known missense c.242 p.R81T 1.000 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC CALCOCO1 57658 genome.wustl.edu 37 12 54118528 54118528 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 54118528 54118528 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known missense c.160 p.E54K 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC CAMKK1 84254 genome.wustl.edu 37 17 3773109 3773109 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 3773109 3773109 C T SNP CAMKK1 ENST00000381771 human ensembl 70_37 -1 known missense c.1312 p.V438M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKK1 HGNC CAMSAP2 23271 genome.wustl.edu 37 1 200818904 200818904 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 200818904 200818904 C T SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.3040 p.R1014W 0.999 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC CAMTA2 23125 genome.wustl.edu 37 17 4883075 4883075 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4883075 4883075 G A SNP CAMTA2 ENST00000414043 human ensembl 70_37 -1 known silent c.1611 p.I537 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC CAND2 23066 genome.wustl.edu 37 3 12856710 12856710 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 12856710 12856710 C T SNP CAND2 ENST00000456430 human ensembl 70_37 +1 known silent c.1077 p.I359 0.999 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC CANX 821 genome.wustl.edu 37 5 179149866 179149866 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 179149866 179149866 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known missense c.1349 p.R450K 0.317 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC CAPN1 823 genome.wustl.edu 37 11 64974261 64974261 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64974261 64974261 G A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.1576 p.D526N 1.000 superfamily_Calpain_domain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC CAPN14 440854 genome.wustl.edu 37 2 31423341 31423341 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 31423341 31423341 G C SNP CAPN14 ENST00000444918 human ensembl 70_37 -1 known silent c.702 p.L234 0.995 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN14 HGNC CAPS2 84698 genome.wustl.edu 37 12 75678767 75678767 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 75678767 75678767 C G SNP CAPS2 ENST00000409445 human ensembl 70_37 -1 known missense c.1546 p.E516Q 1.000 pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS2 HGNC CARS 833 genome.wustl.edu 37 11 3050644 3050644 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 3050644 3050644 G C SNP CARS ENST00000380525 human ensembl 70_37 -1 known silent c.831 p.L277 0.541 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC CASC3 22794 genome.wustl.edu 37 17 38318312 38318312 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38318312 38318312 G A SNP CASC3 ENST00000264645 human ensembl 70_37 +1 known missense c.514 p.D172N 1.000 pfam_Btz_dom pfam_Btz_dom - no_errors CASC3 HGNC CASKIN1 57524 genome.wustl.edu 37 16 2239141 2239141 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2239141 2239141 G A SNP CASKIN1 ENST00000343516 human ensembl 70_37 -1 known silent c.504 p.L168 0.984 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN1 HGNC CASP3 836 genome.wustl.edu 37 4 185552278 185552278 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 185552278 185552278 C G SNP CASP3 ENST00000308394 human ensembl 70_37 -1 known missense c.517 p.E173Q 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP3 HGNC CASP8AP2 9994 genome.wustl.edu 37 6 90578203 90578203 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 90578203 90578203 G C SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.131 - - - no_errors CASP8AP2 HGNC CASR 846 genome.wustl.edu 37 3 121980728 121980728 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121980728 121980728 G C SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.846 p.E282D 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC CASR 846 genome.wustl.edu 37 3 121980771 121980771 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121980771 121980771 G A SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.889 p.E297K 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC CASR 846 genome.wustl.edu 37 3 122003100 122003100 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122003100 122003100 G A SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.2329 p.E777K 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC CATSPER2P1 440278 genome.wustl.edu 37 15 44038951 44038951 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44038951 44038951 G C SNP CATSPER2P1 ENST00000429276 human ensembl 70_37 -1 known rna NULL NULL 0.350 - - - no_errors CATSPER2P1 HGNC CATSPERG 57828 genome.wustl.edu 37 19 38857940 38857940 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38857940 38857940 C G SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known missense c.2758 p.L920V 0.995 NULL NULL - no_errors CATSPERG HGNC CBFA2T2 9139 genome.wustl.edu 37 20 32217720 32217720 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 32217720 32217720 G A SNP CBFA2T2 ENST00000346541 human ensembl 70_37 +1 known missense c.1255 p.D419N 1.000 prints_MTGR1 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC CBFA2T2 9139 genome.wustl.edu 37 20 32224462 32224462 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 32224462 32224462 C T SNP CBFA2T2 ENST00000346541 human ensembl 70_37 +1 known silent c.1272 p.F424 0.949 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC CBR4 84869 genome.wustl.edu 37 4 169911336 169911336 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 169911336 169911336 G C SNP CBR4 ENST00000306193 human ensembl 70_37 -1 known missense c.679 p.L227V 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors CBR4 HGNC CBWD1 55871 genome.wustl.edu 37 9 121487 121487 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 121487 121487 C T SNP CBWD1 ENST00000356521 human ensembl 70_37 -1 known missense c.1168 p.E390K 0.994 NULL pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC CCDC125 202243 genome.wustl.edu 37 5 68578572 68578572 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 68578572 68578572 G C SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known nonsense c.1520 p.S507* 0.988 NULL NULL - no_errors CCDC125 HGNC CCDC129 223075 genome.wustl.edu 37 7 31614227 31614227 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 31614227 31614227 G T SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known nonsense c.547 p.E183* 0.998 NULL NULL - no_errors CCDC129 HGNC CCDC132 55610 genome.wustl.edu 37 7 92905519 92905519 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 92905519 92905519 C G SNP CCDC132 ENST00000305866 human ensembl 70_37 +1 known missense c.844 p.H282D 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC CCDC150 284992 genome.wustl.edu 37 2 197521510 197521510 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 197521510 197521510 C G SNP CCDC150 ENST00000389175 human ensembl 70_37 +1 known silent c.330 p.L110 0.985 NULL NULL - no_errors CCDC150 HGNC CCDC18 343099 genome.wustl.edu 37 1 93657578 93657578 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 93657578 93657578 C T SNP CCDC18 ENST00000557479 human ensembl 70_37 +1 known nonsense c.838 p.Q280* 0.997 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC CCDC36 339834 genome.wustl.edu 37 3 49293632 49293632 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49293632 49293632 G T SNP CCDC36 ENST00000296449 human ensembl 70_37 +1 known missense c.702 p.Q234H 1.000 NULL NULL - no_errors CCDC36 HGNC CCDC37 348807 genome.wustl.edu 37 3 126138978 126138978 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 126138978 126138978 C G SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known missense c.991 p.L331V 0.002 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC CCDC37 348807 genome.wustl.edu 37 3 126142171 126142171 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 126142171 126142171 G A SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.1089 p.S363 0.011 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC CCDC38 120935 genome.wustl.edu 37 12 96300167 96300167 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 96300167 96300167 C G SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.367 p.E123Q 0.993 NULL NULL - no_errors CCDC38 HGNC CCDC63 160762 genome.wustl.edu 37 12 111318975 111318975 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 111318975 111318975 C G SNP CCDC63 ENST00000308208 human ensembl 70_37 +1 known missense c.728 p.S243C 0.994 NULL NULL - no_errors CCDC63 HGNC CCDC64 92558 genome.wustl.edu 37 12 120518757 120518757 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 120518757 120518757 G A SNP CCDC64 ENST00000257583 human ensembl 70_37 +1 known missense c.466 p.E156K 1.000 NULL NULL - no_errors CCDC64 HGNC CCDC64B 146439 genome.wustl.edu 37 16 3080597 3080597 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3080597 3080597 C T SNP CCDC64B ENST00000389347 human ensembl 70_37 -1 known splice_site c.616-1 e4-1 1.000 - - - no_errors CCDC64B HGNC CCDC7 79741 genome.wustl.edu 37 10 32833221 32833221 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 32833221 32833221 C G SNP CCDC7 ENST00000277657 human ensembl 70_37 +1 known missense c.1126 p.Q376E 0.377 NULL NULL - no_errors CCDC7 HGNC CCDC91 55297 genome.wustl.edu 37 12 28459678 28459678 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 28459678 28459678 C T SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known nonsense c.271 p.Q91* 1.000 NULL NULL - no_errors CCDC91 HGNC CCDC92 80212 genome.wustl.edu 37 12 124428832 124428832 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124428832 124428832 C G SNP CCDC92 ENST00000238156 human ensembl 70_37 -1 known silent c.21 p.S7 0.000 NULL NULL - no_errors CCDC92 HGNC CCK 885 genome.wustl.edu 37 3 42305093 42305093 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 42305093 42305093 C T SNP CCK ENST00000334681 human ensembl 70_37 -1 known silent c.30 p.L10 1.000 pfam_Gastrin pfam_Gastrin,smart_Gastrin - no_errors CCK HGNC CCNF 899 genome.wustl.edu 37 16 2503298 2503298 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2503298 2503298 C T SNP CCNF ENST00000397066 human ensembl 70_37 +1 known silent c.1575 p.I525 1.000 pfam_Cyclin_C,superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC CCNT2 905 genome.wustl.edu 37 2 135710843 135710843 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 135710843 135710843 C G SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known nonsense c.818 p.S273* 0.997 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC CCNT2 905 genome.wustl.edu 37 2 135710948 135710948 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 135710948 135710948 C G SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known missense c.923 p.A308G 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC CCR1 1230 genome.wustl.edu 37 3 46245498 46245498 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 46245498 46245498 C T SNP CCR1 ENST00000296140 human ensembl 70_37 -1 known missense c.307 p.D103N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC CCR9 10803 genome.wustl.edu 37 3 45942949 45942949 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 45942949 45942949 C T SNP CCR9 ENST00000357632 human ensembl 70_37 +1 known silent c.669 p.F223 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR11 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC CCRN4L 25819 genome.wustl.edu 37 4 139966097 139966097 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 139966097 139966097 G A SNP CCRN4L ENST00000280614 human ensembl 70_37 +1 known silent c.765 p.L255 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC CD164L2 388611 genome.wustl.edu 37 1 27709027 27709027 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27709027 27709027 G A SNP CD164L2 ENST00000374030 human ensembl 70_37 -1 known silent c.219 p.S73 0.073 pfam_CD164_MGC24 pfam_CD164_MGC24 - no_errors CD164L2 HGNC CD200 4345 genome.wustl.edu 37 3 112066545 112066545 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 112066545 112066545 C G SNP CD200 ENST00000473539 human ensembl 70_37 +1 known missense c.637 p.H213D 0.018 pfam_Immunoglobulin pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD200 HGNC CD226 10666 genome.wustl.edu 37 18 67614101 67614101 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 67614101 67614101 G A SNP CD226 ENST00000280200 human ensembl 70_37 -1 known missense c.251 p.S84L 0.010 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC CD36 948 genome.wustl.edu 37 7 80300396 80300396 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 80300396 80300396 G A SNP CD36 ENST00000309881 human ensembl 70_37 +1 known missense c.922 p.D308N 1.000 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC CD4 920 genome.wustl.edu 37 12 6926360 6926360 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6926360 6926360 G A SNP CD4 ENST00000011653 human ensembl 70_37 +1 known silent c.1020 p.L340 0.985 pfam_Ig_C2-set pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC CD4 920 genome.wustl.edu 37 12 6927704 6927704 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6927704 6927704 G A SNP CD4 ENST00000011653 human ensembl 70_37 +1 known missense c.1274 p.R425Q 0.039 NULL pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC CD47 961 genome.wustl.edu 37 3 107762491 107762491 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 107762491 107762491 C G SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors CD47 HGNC CD96 10225 genome.wustl.edu 37 3 111264108 111264108 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 111264108 111264108 G T SNP CD96 ENST00000283285 human ensembl 70_37 +1 known nonsense c.277 p.E93* 0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors CD96 HGNC CDC14B 8555 genome.wustl.edu 37 9 99258569 99258569 + Nonstop_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 99258569 99258569 C G SNP CDC14B ENST00000265659 human ensembl 70_37 -1 known nonstop c.1416 p.*472Y 0.941 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC CDC25A 993 genome.wustl.edu 37 3 48228245 48228245 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48228245 48228245 C T SNP CDC25A ENST00000302506 human ensembl 70_37 -1 known silent c.195 p.V65 0.873 NULL pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC CDC25B 994 genome.wustl.edu 37 20 3781913 3781913 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3781913 3781913 G C SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.718 p.D240H 0.940 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC CDC25B 994 genome.wustl.edu 37 20 3781997 3781997 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3781997 3781997 G C SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.802 p.D268H 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC CDC25B 994 genome.wustl.edu 37 20 3783436 3783436 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3783436 3783436 G C SNP CDC25B ENST00000468979 human ensembl 70_37 +1 known rna NULL NULL 0.163 - - - no_errors CDC25B HGNC CDC25C 995 genome.wustl.edu 37 5 137621806 137621806 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 137621806 137621806 C T SNP CDC25C ENST00000323760 human ensembl 70_37 -1 known missense c.1177 p.E393K 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC CDC42BPB 9578 genome.wustl.edu 37 14 103470347 103470347 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 103470347 103470347 C T SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known missense c.365 p.R122Q 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_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC CDC42BPG 55561 genome.wustl.edu 37 11 64594232 64594232 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64594232 64594232 G A SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4424 p.S1475F 0.128 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC CDC42BPG 55561 genome.wustl.edu 37 11 64594598 64594598 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64594598 64594598 G A SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4313 p.S1438L 1.000 pfscan_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC CDC42BPG 55561 genome.wustl.edu 37 11 64594862 64594862 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64594862 64594862 C T SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4159 p.E1387K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC CDC42EP1 11135 genome.wustl.edu 37 22 37962412 37962412 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 37962412 37962412 C T SNP CDC42EP1 ENST00000249014 human ensembl 70_37 +1 known missense c.56 p.S19L 0.998 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC CDC5L 988 genome.wustl.edu 37 6 44387271 44387271 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 44387271 44387271 C G SNP CDC5L ENST00000371477 human ensembl 70_37 +1 known nonsense c.1178 p.S393* 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC CDH11 1009 genome.wustl.edu 37 16 64984692 64984692 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 64984692 64984692 G C SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.1872 p.L624 0.327 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CDH12 1010 genome.wustl.edu 37 5 21817228 21817228 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 21817228 21817228 C G SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known missense c.828 p.L276F 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC CDH13 1012 genome.wustl.edu 37 16 82892020 82892020 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 82892020 82892020 G C SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known missense c.99 p.Q33H 1.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC CDH13 1012 genome.wustl.edu 37 16 83817034 83817034 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 83817034 83817034 C T SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known silent c.2091 p.F697 0.699 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC CDH13 1012 genome.wustl.edu 37 16 83817049 83817049 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 83817049 83817049 C T SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known silent c.2106 p.V702 0.262 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC CDH15 1013 genome.wustl.edu 37 16 89251670 89251670 + Missense_Mutation SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89251670 89251670 A G SNP CDH15 ENST00000289746 human ensembl 70_37 +1 known missense c.592 p.S198G 0.052 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC CDHR2 54825 genome.wustl.edu 37 5 176011451 176011451 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176011451 176011451 G C SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.2169 p.Q723H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC CDK13 8621 genome.wustl.edu 37 7 40041617 40041617 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 40041617 40041617 C G SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.2340 p.F780L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC CDK14 5218 genome.wustl.edu 37 7 90356041 90356041 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 90356041 90356041 C G SNP CDK14 ENST00000380050 human ensembl 70_37 +1 known missense c.284 p.S95C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK14 HGNC CDK18 5129 genome.wustl.edu 37 1 205501518 205501518 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 205501518 205501518 C T SNP CDK18 ENST00000509056 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC CDK5RAP2 55755 genome.wustl.edu 37 9 123165171 123165171 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 123165171 123165171 C T SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known silent c.5220 p.Q1740 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC CDKL1 8814 genome.wustl.edu 37 14 50809653 50809653 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50809653 50809653 C T SNP CDKL1 ENST00000356146 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors CDKL1 HGNC CDKL1 8814 genome.wustl.edu 37 14 50845055 50845055 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50845055 50845055 G A SNP CDKL1 ENST00000356146 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors CDKL1 HGNC CDON 50937 genome.wustl.edu 37 11 125893310 125893310 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 125893310 125893310 G T SNP CDON ENST00000392693 human ensembl 70_37 -1 known missense c.62 p.S21Y 0.398 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC CDR2L 30850 genome.wustl.edu 37 17 72995616 72995616 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 72995616 72995616 G C SNP CDR2L ENST00000337231 human ensembl 70_37 +1 known missense c.97 p.E33Q 1.000 NULL NULL - no_errors CDR2L HGNC CDS2 8760 genome.wustl.edu 37 20 5171875 5171875 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 5171875 5171875 C G SNP CDS2 ENST00000379070 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CDS2 HGNC CDT1 81620 genome.wustl.edu 37 16 88871284 88871284 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88871284 88871284 G A SNP CDT1 ENST00000301019 human ensembl 70_37 +1 known missense c.466 p.E156K 0.000 NULL pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC CEACAM6 4680 genome.wustl.edu 37 19 42259575 42259575 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 42259575 42259575 G A SNP CEACAM6 ENST00000199764 human ensembl 70_37 +1 known missense c.29 p.R10K 0.003 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM6 HGNC CEBPA 1050 genome.wustl.edu 37 19 33792306 33792306 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 33792306 33792306 G A SNP CEBPA ENST00000498907 human ensembl 70_37 -1 known missense c.1015 p.R339W 1.000 smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPA HGNC CECR1 51816 genome.wustl.edu 37 22 17687984 17687984 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17687984 17687984 C G SNP CECR1 ENST00000262607 human ensembl 70_37 -1 known missense c.519 p.Q173H 0.001 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC CECR1 51816 genome.wustl.edu 37 22 17688135 17688135 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17688135 17688135 C T SNP CECR1 ENST00000262607 human ensembl 70_37 -1 known nonsense c.368 p.W123* 1.000 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC CELP 1057 genome.wustl.edu 37 9 135960313 135960313 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 135960313 135960313 C T SNP CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.316 - - - no_errors CELP HGNC CELSR2 1952 genome.wustl.edu 37 1 109803758 109803758 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 109803758 109803758 C T SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known silent c.4053 p.F1351 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CEND1 51286 genome.wustl.edu 37 11 788163 788163 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 788163 788163 C T SNP CEND1 ENST00000330106 human ensembl 70_37 -1 known silent c.414 p.L138 0.959 NULL NULL - no_errors CEND1 HGNC CENPE 1062 genome.wustl.edu 37 4 104061469 104061469 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 104061469 104061469 G C SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.5857 p.Q1953E 0.003 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CENPE 1062 genome.wustl.edu 37 4 104065773 104065773 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 104065773 104065773 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.4860 p.M1620I 0.475 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CENPF 1063 genome.wustl.edu 37 1 214788402 214788402 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 214788402 214788402 G A SNP CENPF ENST00000464322 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CENPF HGNC CENPF 1063 genome.wustl.edu 37 1 214813659 214813659 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 214813659 214813659 G A SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.1978 p.E660K 0.820 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CENPF 1063 genome.wustl.edu 37 1 214814304 214814304 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 214814304 214814304 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.2623 p.Q875E 0.758 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CENPN 55839 genome.wustl.edu 37 16 81050974 81050974 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 81050974 81050974 G C SNP CENPN ENST00000299572 human ensembl 70_37 +1 known missense c.261 p.Q87H 0.941 pfam_CHL4 pfam_CHL4 - no_errors CENPN HGNC CENPQ 55166 genome.wustl.edu 37 6 49456095 49456095 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 49456095 49456095 G A SNP CENPQ ENST00000335783 human ensembl 70_37 +1 known missense c.508 p.E170K 0.126 NULL NULL - no_errors CENPQ HGNC CEP152 22995 genome.wustl.edu 37 15 49090193 49090193 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 49090193 49090193 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known missense c.143 p.S48F 1.000 NULL NULL - no_errors CEP152 HGNC CEP170 9859 genome.wustl.edu 37 1 243327601 243327601 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 243327601 243327601 G C SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.3661 p.H1221D 0.994 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC CEP250 11190 genome.wustl.edu 37 20 34095599 34095599 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34095599 34095599 G C SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known missense c.6669 p.E2223D 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC CEP350 9857 genome.wustl.edu 37 1 179993679 179993679 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179993679 179993679 C G SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.3512 p.S1171C 0.998 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC CEP63 80254 genome.wustl.edu 37 3 134278115 134278115 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 134278115 134278115 G A SNP CEP63 ENST00000337090 human ensembl 70_37 +1 known silent c.1797 p.L599 0.303 NULL NULL - no_errors CEP63 HGNC CEP68 23177 genome.wustl.edu 37 2 65299104 65299104 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 65299104 65299104 C G SNP CEP68 ENST00000377990 human ensembl 70_37 +1 known missense c.874 p.L292V 0.964 NULL NULL - no_errors CEP68 HGNC CEP68 23177 genome.wustl.edu 37 2 65305035 65305035 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 65305035 65305035 C G SNP CEP68 ENST00000377990 human ensembl 70_37 +1 known missense c.2041 p.L681V 0.999 NULL NULL - no_errors CEP68 HGNC CEP70 80321 genome.wustl.edu 37 3 138248112 138248112 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138248112 138248112 G C SNP CEP70 ENST00000264982 human ensembl 70_37 -1 known silent c.798 p.L266 0.076 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC CERCAM 51148 genome.wustl.edu 37 9 131186797 131186797 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131186797 131186797 G A SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known missense c.670 p.E224K 0.945 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC CERCAM 51148 genome.wustl.edu 37 9 131193546 131193546 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131193546 131193546 G A SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known silent c.1167 p.V389 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC CERS3 204219 genome.wustl.edu 37 15 101042036 101042036 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 101042036 101042036 C G SNP CERS3 ENST00000284382 human ensembl 70_37 -1 known missense c.19 p.E7Q 1.000 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS3 HGNC CFDP1 10428 genome.wustl.edu 37 16 75338926 75338926 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 75338926 75338926 C G SNP CFDP1 ENST00000283882 human ensembl 70_37 -1 known missense c.805 p.E269Q 1.000 pfam_BCNT pfam_BCNT - no_errors CFDP1 HGNC CFDP1 10428 genome.wustl.edu 37 16 75445851 75445851 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 75445851 75445851 C T SNP CFDP1 ENST00000283882 human ensembl 70_37 -1 known splice_site c.403-1 e4-1 0.341 - - - no_errors CFDP1 HGNC CFHR5 81494 genome.wustl.edu 37 1 196964876 196964876 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 196964876 196964876 C G SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.709 p.Q237E 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC CHD1 1105 genome.wustl.edu 37 5 98229157 98229157 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 98229157 98229157 C G SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.1954 p.E652Q 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC CHD3 1107 genome.wustl.edu 37 17 7810527 7810527 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7810527 7810527 G C SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.4750 p.E1584Q 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC CHD4 1108 genome.wustl.edu 37 12 6709028 6709028 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6709028 6709028 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.1393 p.D465N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC CHD8 57680 genome.wustl.edu 37 14 21882483 21882483 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21882483 21882483 G C SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.2119 p.Q707E 1.000 superfamily_Chromodomain-like pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC CHD9 80205 genome.wustl.edu 37 16 53301906 53301906 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53301906 53301906 G A SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.4585 p.E1529K 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC CHEK1 1111 genome.wustl.edu 37 11 125499337 125499337 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 125499337 125499337 C T SNP CHEK1 ENST00000438015 human ensembl 70_37 +1 known missense c.406 p.L136F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CHEK1 HGNC CHGB 1114 genome.wustl.edu 37 20 5903673 5903673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 5903673 5903673 C G SNP CHGB ENST00000378961 human ensembl 70_37 +1 known missense c.883 p.Q295E 0.997 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC CHIAP2 149620 genome.wustl.edu 37 1 111825686 111825686 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 111825686 111825686 C T SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIAP2 HGNC CHMP1A 5119 genome.wustl.edu 37 16 89718046 89718046 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89718046 89718046 C G SNP CHMP1A ENST00000253475 human ensembl 70_37 -1 known missense c.16 p.E6Q 0.385 NULL NULL - no_errors CHMP1A HGNC CHP1 11261 genome.wustl.edu 37 15 41535869 41535869 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41535869 41535869 C T SNP CHP1 ENST00000334660 human ensembl 70_37 +1 known silent c.72 p.S24 0.999 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CHP1 HGNC CHP1 11261 genome.wustl.edu 37 15 41535870 41535870 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41535870 41535870 C T SNP CHP1 ENST00000334660 human ensembl 70_37 +1 known missense c.73 p.H25Y 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CHP1 HGNC CHPF 79586 genome.wustl.edu 37 2 220405172 220405172 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220405172 220405172 C T SNP CHPF ENST00000243776 human ensembl 70_37 -1 known missense c.1261 p.D421N 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC CHRM5 1133 genome.wustl.edu 37 15 34356038 34356038 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34356038 34356038 C T SNP CHRM5 ENST00000383263 human ensembl 70_37 +1 known nonsense c.1120 p.Q374* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC CHRM5 1133 genome.wustl.edu 37 15 34356124 34356124 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34356124 34356124 C T SNP CHRM5 ENST00000383263 human ensembl 70_37 +1 known silent c.1206 p.I402 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC CHRNA1 1134 genome.wustl.edu 37 2 175618995 175618995 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 175618995 175618995 C G SNP CHRNA1 ENST00000261007 human ensembl 70_37 -1 known missense c.567 p.M189I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC CHRNA1 1134 genome.wustl.edu 37 2 175624354 175624354 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 175624354 175624354 G A SNP CHRNA1 ENST00000261007 human ensembl 70_37 -1 known silent c.51 p.L17 0.175 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC CHST14 113189 genome.wustl.edu 37 15 40764143 40764143 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 40764143 40764143 G A SNP CHST14 ENST00000306243 human ensembl 70_37 +1 known missense c.731 p.R244Q 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC CHST15 51363 genome.wustl.edu 37 10 125804145 125804145 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 125804145 125804145 G A SNP CHST15 ENST00000346248 human ensembl 70_37 -1 known silent c.837 p.V279 0.962 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC CIB2 10518 genome.wustl.edu 37 15 78398016 78398016 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 78398016 78398016 C G SNP CIB2 ENST00000560618 human ensembl 70_37 -1 putative missense c.478 p.E160Q 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB2 HGNC CIC 23152 genome.wustl.edu 37 19 42795012 42795012 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 42795012 42795012 G A SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.2092 p.E698K 0.471 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CILP 8483 genome.wustl.edu 37 15 65490682 65490682 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65490682 65490682 C G SNP CILP ENST00000261883 human ensembl 70_37 -1 known missense c.1942 p.E648Q 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC CISD3 284106 genome.wustl.edu 37 17 36890307 36890307 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 36890307 36890307 C G SNP CISD3 ENST00000578573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CISD3 HGNC CIZ1 25792 genome.wustl.edu 37 9 130931345 130931345 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130931345 130931345 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.2359 p.E787K 0.985 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC CIZ1 25792 genome.wustl.edu 37 9 130931351 130931351 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130931351 130931351 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.2353 p.E785K 0.413 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC CKAP5 9793 genome.wustl.edu 37 11 46771957 46771957 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 46771957 46771957 C G SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.5592 p.K1864N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC CLCC1 23155 genome.wustl.edu 37 1 109477521 109477521 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 109477521 109477521 C T SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known missense c.1427 p.G476E 0.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC CLCN2 1181 genome.wustl.edu 37 3 184071526 184071526 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184071526 184071526 G C SNP CLCN2 ENST00000265593 human ensembl 70_37 -1 known silent c.1779 p.L593 0.976 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC CLCN7 1186 genome.wustl.edu 37 16 1502884 1502884 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1502884 1502884 G A SNP CLCN7 ENST00000382745 human ensembl 70_37 -1 known missense c.1225 p.R409W 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC CLCNKA 1187 genome.wustl.edu 37 1 16359706 16359706 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16359706 16359706 C G SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known missense c.1971 p.F657L 0.015 pfam_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC CLDN6 9074 genome.wustl.edu 37 16 3065630 3065630 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3065630 3065630 C G SNP CLDN6 ENST00000328796 human ensembl 70_37 -1 known silent c.393 p.L131 0.952 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC CLEC16A 23274 genome.wustl.edu 37 16 11097066 11097066 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11097066 11097066 G A SNP CLEC16A ENST00000409790 human ensembl 70_37 +1 known missense c.1207 p.E403K 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC CLEC17A 388512 genome.wustl.edu 37 19 14703135 14703135 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14703135 14703135 C G SNP CLEC17A ENST00000417570 human ensembl 70_37 +1 known nonsense c.242 p.S81* 0.004 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC CLEC4A 50856 genome.wustl.edu 37 12 8289436 8289436 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 8289436 8289436 C G SNP CLEC4A ENST00000229332 human ensembl 70_37 +1 known nonsense c.503 p.S168* 0.960 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC CLIP1 6249 genome.wustl.edu 37 12 122862424 122862424 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 122862424 122862424 C T SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known missense c.169 p.D57N 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC CLNK 116449 genome.wustl.edu 37 4 10515215 10515215 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 10515215 10515215 C T SNP CLNK ENST00000226951 human ensembl 70_37 -1 known missense c.779 p.R260K 0.006 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC CLPP 8192 genome.wustl.edu 37 19 6368611 6368611 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6368611 6368611 G C SNP CLPP ENST00000245816 human ensembl 70_37 +1 known missense c.724 p.D242H 1.000 pfam_ClpP/TepA,prints_ClpP pfam_ClpP/TepA,prints_ClpP - no_errors CLPP HGNC CLPS 1208 genome.wustl.edu 37 6 35762944 35762944 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 35762944 35762944 G A SNP CLPS ENST00000259938 human ensembl 70_37 -1 known silent c.318 p.D106 0.008 pfam_Colipase_C,smart_Colipase,prints_Colipase pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase - no_errors CLPS HGNC CLRN1-AS1 116933 genome.wustl.edu 37 3 150690496 150690496 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 150690496 150690496 G A SNP CLRN1-AS1 ENST00000465576 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CLRN1-AS1 HGNC CLRN3 119467 genome.wustl.edu 37 10 129682072 129682072 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 129682072 129682072 C G SNP CLRN3 ENST00000368671 human ensembl 70_37 -1 known silent c.297 p.L99 0.003 NULL NULL - no_errors CLRN3 HGNC CLTC 1213 genome.wustl.edu 37 17 57754406 57754406 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 57754406 57754406 G C SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.2653 p.D885H 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC CLTC 1213 genome.wustl.edu 37 17 57761320 57761320 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 57761320 57761320 C G SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.4408 p.L1470V 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC CLTCL1 8218 genome.wustl.edu 37 22 19241716 19241716 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19241716 19241716 C T SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.285 p.M95I 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC CLTCL1 8218 genome.wustl.edu 37 22 19241721 19241721 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19241721 19241721 C T SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.280 p.E94K 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC CMKLR1 1240 genome.wustl.edu 37 12 108685989 108685989 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 108685989 108685989 G A SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.751 p.R251C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_Frt_met_rcpt,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC CMYA5 202333 genome.wustl.edu 37 5 79029027 79029027 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 79029027 79029027 C G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.4439 p.S1480C 0.870 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNBD2 140894 genome.wustl.edu 37 20 34599058 34599058 + Splice_Site SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34599058 34599058 G A SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known splice_site c.1149-1 e10-1 1.000 - - - no_errors CNBD2 HGNC CNBD2 140894 genome.wustl.edu 37 20 34618306 34618306 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34618306 34618306 C G SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known silent c.1467 p.L489 0.116 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC CNKSR1 10256 genome.wustl.edu 37 1 26515969 26515969 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 26515969 26515969 C G SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.2093 p.S698C 0.005 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC CNKSR2 22866 genome.wustl.edu 37 X 21627323 21627323 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 21627323 21627323 G C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.2280 p.K760N 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC CNNM1 26507 genome.wustl.edu 37 10 101090206 101090206 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 101090206 101090206 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1062 p.I354 1.000 pfam_DUF21 pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC CNTD1 124817 genome.wustl.edu 37 17 40951157 40951157 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40951157 40951157 G A SNP CNTD1 ENST00000588408 human ensembl 70_37 +1 known silent c.72 p.T24 0.790 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC CNTN1 1272 genome.wustl.edu 37 12 41374753 41374753 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 41374753 41374753 G T SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.1847 p.R616I 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC CNTNAP1 8506 genome.wustl.edu 37 17 40847810 40847810 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40847810 40847810 C T SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known silent c.3264 p.F1088 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 125671805 125671805 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 125671805 125671805 C T SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known silent c.3861 p.F1287 0.999 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC COA3 28958 genome.wustl.edu 37 17 40950669 40950669 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40950669 40950669 C G SNP COA3 ENST00000328434 human ensembl 70_37 -1 known missense c.31 p.D11H 0.004 pfam_Coiled-coil_56 pfam_Coiled-coil_56 - no_errors COA3 HGNC COBL 23242 genome.wustl.edu 37 7 51098509 51098509 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 51098509 51098509 C T SNP COBL ENST00000395542 human ensembl 70_37 -1 known missense c.1750 p.E584K 1.000 NULL pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC COG2 22796 genome.wustl.edu 37 1 230823905 230823905 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 230823905 230823905 G C SNP COG2 ENST00000490900 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors COG2 HGNC COG5 10466 genome.wustl.edu 37 7 106851011 106851011 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 106851011 106851011 C G SNP COG5 ENST00000297135 human ensembl 70_37 -1 known missense c.2428 p.D810H 1.000 NULL pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC COL14A1 7373 genome.wustl.edu 37 8 121301998 121301998 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 121301998 121301998 C G SNP COL14A1 ENST00000297848 human ensembl 70_37 +1 known missense c.4229 p.S1410C 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC COL1A1 1277 genome.wustl.edu 37 17 48276789 48276789 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48276789 48276789 C T SNP COL1A1 ENST00000225964 human ensembl 70_37 -1 known missense c.359 p.R120Q 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC COL27A1 85301 genome.wustl.edu 37 9 117037965 117037965 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 117037965 117037965 G C SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.3634 p.D1212H 0.993 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48368503 48368503 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 48368503 48368503 C G SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.4029 p.E1343D 0.951 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48393822 48393822 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 48393822 48393822 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.172 p.D58N 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC COL4A2 1284 genome.wustl.edu 37 13 111109743 111109743 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 111109743 111109743 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.1393 p.P465S 0.016 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC COL6A1 1291 genome.wustl.edu 37 21 47410899 47410899 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47410899 47410899 C G SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known missense c.1063 p.Q355E 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC COL6A1 1291 genome.wustl.edu 37 21 47423314 47423314 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47423314 47423314 C G SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known missense c.2474 p.S825C 0.743 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC COL6A2 1292 genome.wustl.edu 37 21 47545434 47545434 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47545434 47545434 G A SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known silent c.1872 p.E624 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC COL6A3 1293 genome.wustl.edu 37 2 238261167 238261167 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238261167 238261167 G T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known silent c.6751 p.R2251 0.986 NULL 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 COL7A1 1294 genome.wustl.edu 37 3 48624494 48624494 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48624494 48624494 G C SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.3187 p.Q1063E 0.030 pfscan_VWF_A pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC COL8A1 1295 genome.wustl.edu 37 3 99514522 99514522 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 99514522 99514522 G C SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.1777 p.D593H 0.889 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC COLQ 8292 genome.wustl.edu 37 3 15516911 15516911 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 15516911 15516911 C G SNP COLQ ENST00000495788 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors COLQ HGNC COMMD6 170622 genome.wustl.edu 37 13 76104529 76104529 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 76104529 76104529 C G SNP COMMD6 ENST00000486516 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors COMMD6 HGNC COPG1 22820 genome.wustl.edu 37 3 128990687 128990687 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128990687 128990687 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.1921 p.E641K 1.000 pfam_Coatomer_gsu_app,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC COQ4 51117 genome.wustl.edu 37 9 131085386 131085386 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131085386 131085386 C T SNP COQ4 ENST00000300452 human ensembl 70_37 +1 known silent c.162 p.A54 0.097 pfam_CoenzQ_biosynthesis_Coq4 pfam_CoenzQ_biosynthesis_Coq4 - no_errors COQ4 HGNC CORO2A 7464 genome.wustl.edu 37 9 100889065 100889065 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100889065 100889065 C T SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known silent c.1212 p.L404 0.003 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC CORO2A 7464 genome.wustl.edu 37 9 100890986 100890986 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100890986 100890986 C G SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known missense c.983 p.R328T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC CORO2A 7464 genome.wustl.edu 37 9 100892173 100892173 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100892173 100892173 C G SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known splice_site c.871-1 e7-1 1.000 - - - no_errors CORO2A HGNC CORO7-PAM16 100529144 genome.wustl.edu 37 16 4409516 4409516 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4409516 4409516 C G SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known missense c.2215 p.D739H 1.000 pfam_DUF1900 pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC COX4I1 1327 genome.wustl.edu 37 16 85834864 85834864 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 85834864 85834864 C G SNP COX4I1 ENST00000253452 human ensembl 70_37 +1 known missense c.53 p.S18C 1.000 NULL pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I1 HGNC COX5A 9377 genome.wustl.edu 37 15 75212768 75212768 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 75212768 75212768 C T SNP COX5A ENST00000568783 human ensembl 70_37 -1 putative missense c.355 p.D119N 0.009 NULL pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 - no_errors COX5A HGNC COX7B 1349 genome.wustl.edu 37 X 77158374 77158374 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 77158374 77158374 G C SNP COX7B ENST00000475465 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors COX7B HGNC CPA5 93979 genome.wustl.edu 37 7 129987668 129987668 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 129987668 129987668 G C SNP CPA5 ENST00000355388 human ensembl 70_37 +1 known missense c.178 p.E60Q 0.997 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC CPLX1 10815 genome.wustl.edu 37 4 786358 786358 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 786358 786358 C G SNP CPLX1 ENST00000304062 human ensembl 70_37 -1 known missense c.70 p.E24Q 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC CPNE4 131034 genome.wustl.edu 37 3 131253882 131253883 + RNA INS - - A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 131253882 131253883 - A INS CPNE4 ENST00000503204 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors CPNE4 HGNC CPSF1 29894 genome.wustl.edu 37 8 145623321 145623321 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145623321 145623321 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1921 p.D641H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CPSF1 29894 genome.wustl.edu 37 8 145624235 145624235 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145624235 145624235 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known silent c.1572 p.V524 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CPSF1 29894 genome.wustl.edu 37 8 145624241 145624241 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145624241 145624241 C T SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known silent c.1566 p.Q522 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CPT1B 1375 genome.wustl.edu 37 22 51009456 51009456 + Missense_Mutation SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 51009456 51009456 T C SNP CPT1B ENST00000312108 human ensembl 70_37 -1 known missense c.1892 p.D631G 0.257 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC CPT2 1376 genome.wustl.edu 37 1 53675983 53675983 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53675983 53675983 G C SNP CPT2 ENST00000371486 human ensembl 70_37 +1 known missense c.637 p.D213H 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC CPXM1 56265 genome.wustl.edu 37 20 2777278 2777278 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2777278 2777278 C G SNP CPXM1 ENST00000380605 human ensembl 70_37 -1 known missense c.940 p.E314Q 0.997 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC CRCP 27297 genome.wustl.edu 37 7 65617276 65617276 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65617276 65617276 G C SNP CRCP ENST00000395326 human ensembl 70_37 +1 known missense c.379 p.E127Q 0.249 superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC CRCP 27297 genome.wustl.edu 37 7 65617299 65617299 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65617299 65617299 G C SNP CRCP ENST00000395326 human ensembl 70_37 +1 known missense c.402 p.K134N 0.000 NULL pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC CREB5 9586 genome.wustl.edu 37 7 28844035 28844035 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 28844035 28844035 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known nonsense c.922 p.Q308* 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC CREBZF 58487 genome.wustl.edu 37 11 85371510 85371510 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 85371510 85371510 G C SNP CREBZF ENST00000531515 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CREBZF HGNC CREM 1390 genome.wustl.edu 37 10 35500776 35500776 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 35500776 35500776 G A SNP CREM ENST00000469517 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CREM HGNC CRHR1-IT1 147081 genome.wustl.edu 37 17 43713654 43713654 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43713654 43713654 C T SNP CRHR1-IT1 ENST00000455565 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors CRHR1-IT1 HGNC CROCC 9696 genome.wustl.edu 37 1 17275495 17275495 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17275495 17275495 C T SNP CROCC ENST00000488646 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CROCC HGNC CSDE1 7812 genome.wustl.edu 37 1 115292556 115292556 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 115292556 115292556 G C SNP CSDE1 ENST00000524652 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CSDE1 HGNC CSMD3 114788 genome.wustl.edu 37 8 113349922 113349922 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 113349922 113349922 G T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.6691 p.R2231 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSNK1D 1453 genome.wustl.edu 37 17 80206854 80206854 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 80206854 80206854 C G SNP CSNK1D ENST00000314028 human ensembl 70_37 -1 known missense c.1094 p.R365T 0.999 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 CSNK1D HGNC CSPG4 1464 genome.wustl.edu 37 15 75982032 75982032 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 75982032 75982032 C T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known silent c.1374 p.L458 0.605 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CST1 1469 genome.wustl.edu 37 20 23731323 23731323 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 23731323 23731323 C G SNP CST1 ENST00000304749 human ensembl 70_37 -1 known missense c.181 p.D61H 0.005 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC CSTF3 1479 genome.wustl.edu 37 11 33113844 33113844 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 33113844 33113844 G C SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known missense c.1418 p.S473C 1.000 pfam_Suf,smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC CTAGE1 64693 genome.wustl.edu 37 18 19996018 19996018 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 19996018 19996018 G C SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known nonsense c.1757 p.S586* 0.012 NULL NULL - no_errors CTAGE1 HGNC CTBP2 1488 genome.wustl.edu 37 10 126716145 126716145 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 126716145 126716145 G C SNP CTBP2 ENST00000309035 human ensembl 70_37 -1 known missense c.184 p.L62V 0.170 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC CTCF 10664 genome.wustl.edu 37 16 67663428 67663428 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67663428 67663428 C T SNP CTCF ENST00000264010 human ensembl 70_37 +1 known missense c.1829 p.S610F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC CTNNBIP1 56998 genome.wustl.edu 37 1 9931320 9931320 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 9931320 9931320 C G SNP CTNNBIP1 ENST00000377256 human ensembl 70_37 -1 known missense c.112 p.E38Q 1.000 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC CTNNBL1 56259 genome.wustl.edu 37 20 36500431 36500431 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 36500431 36500431 G A SNP CTNNBL1 ENST00000473857 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTNNBL1 HGNC CTNND1 1500 genome.wustl.edu 37 11 57564334 57564334 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57564334 57564334 C T SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known missense c.826 p.H276Y 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC CTNND2 1501 genome.wustl.edu 37 5 10972668 10972668 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 10972668 10972668 C G SNP CTNND2 ENST00000495388 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTNND2 HGNC CUL1 8454 genome.wustl.edu 37 7 148484149 148484149 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 148484149 148484149 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known silent c.1416 p.K472 0.998 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC CUL7 9820 genome.wustl.edu 37 6 43017742 43017742 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43017742 43017742 G C SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known missense c.1780 p.Q594E 0.986 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC CUL7 9820 genome.wustl.edu 37 6 43017776 43017776 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43017776 43017776 G C SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known silent c.1746 p.L582 0.988 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC CUL7 9820 genome.wustl.edu 37 6 43018878 43018878 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43018878 43018878 G T SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known nonsense c.1313 p.S438* 0.981 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC CUL9 23113 genome.wustl.edu 37 6 43153911 43153911 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43153911 43153911 C T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known silent c.969 p.L323 0.959 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC CUL9 23113 genome.wustl.edu 37 6 43164388 43164388 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43164388 43164388 C T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.2591 p.S864F 0.996 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC CX3CL1 6376 genome.wustl.edu 37 16 57416043 57416043 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57416043 57416043 G A SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known missense c.293 p.R98Q 0.000 superfamily_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC CXCL2 2920 genome.wustl.edu 37 4 74964651 74964651 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 74964651 74964651 G C SNP CXCL2 ENST00000296031 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CXCL2 HGNC ACKR3 57007 genome.wustl.edu 37 2 237489360 237489360 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 237489360 237489360 G C SNP CXCR7 ENST00000272928 human ensembl 70_37 +1 known missense c.252 p.L84F 0.751 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt - no_errors CXCR7 HGNC CXXC1 30827 genome.wustl.edu 37 18 47812538 47812538 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 47812538 47812538 C T SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known missense c.313 p.E105K 1.000 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC CXorf31 724087 genome.wustl.edu 37 X 46749730 46749730 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 46749730 46749730 C G SNP CXorf31 ENST00000377879 human ensembl 70_37 -1 known missense c.135 p.K45N 0.000 NULL NULL - no_errors CXorf31 HGNC CXorf40A 91966 genome.wustl.edu 37 X 148627246 148627246 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 148627246 148627246 G A SNP CXorf40A ENST00000359293 human ensembl 70_37 +1 known missense c.70 p.E24K 1.000 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC CXorf57 55086 genome.wustl.edu 37 X 105855822 105855822 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 105855822 105855822 G T SNP CXorf57 ENST00000372548 human ensembl 70_37 +1 known missense c.512 p.R171I 0.197 superfamily_NA-bd_OB-fold-like superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC CYB5B 80777 genome.wustl.edu 37 16 69458597 69458597 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 69458597 69458597 C G SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known nonsense c.11 p.S4* 0.001 NULL pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC CYB5B 80777 genome.wustl.edu 37 16 69458700 69458700 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 69458700 69458700 G A SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known silent c.114 p.L38 0.254 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC CYFIP1 23191 genome.wustl.edu 37 15 22928439 22928439 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 22928439 22928439 G C SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.316 p.E106Q 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC CYFIP1 23191 genome.wustl.edu 37 15 22997803 22997803 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 22997803 22997803 G A SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.3049 p.E1017K 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC CYLD 1540 genome.wustl.edu 37 16 50783889 50783889 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 50783889 50783889 G C SNP CYLD ENST00000311559 human ensembl 70_37 +1 known missense c.280 p.E94Q 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19 - no_errors CYLD HGNC CYP26A1 1592 genome.wustl.edu 37 10 94836399 94836399 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 94836399 94836399 G T SNP CYP26A1 ENST00000224356 human ensembl 70_37 +1 known silent c.1098 p.L366 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC CYP27A1 1593 genome.wustl.edu 37 2 219679158 219679158 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 219679158 219679158 G C SNP CYP27A1 ENST00000258415 human ensembl 70_37 +1 known missense c.1240 p.D414H 0.044 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC CYP2A7 1549 genome.wustl.edu 37 19 41388019 41388019 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 41388019 41388019 G C SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.97 p.L33V 0.718 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC CYP2C19 1557 genome.wustl.edu 37 10 96522580 96522580 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 96522580 96522580 G C SNP CYP2C19 ENST00000371321 human ensembl 70_37 +1 known missense c.118 p.G40R 0.994 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC CYP2E1 1571 genome.wustl.edu 37 10 135345141 135345141 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 135345141 135345141 G C SNP CYP2E1 ENST00000252945 human ensembl 70_37 +1 known silent c.390 p.L130 0.958 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC CYP3A5 1577 genome.wustl.edu 37 7 99262807 99262807 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 99262807 99262807 G C SNP CYP3A5 ENST00000222982 human ensembl 70_37 -1 known missense c.652 p.P218A 0.951 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC CYP4A22 284541 genome.wustl.edu 37 1 47606478 47606478 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 47606478 47606478 G C SNP CYP4A22 ENST00000371891 human ensembl 70_37 +1 known silent c.222 p.R74 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC CYP4F3 4051 genome.wustl.edu 37 19 15769098 15769098 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15769098 15769098 C T SNP CYP4F3 ENST00000221307 human ensembl 70_37 +1 known silent c.1140 p.F380 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC CYSLTR2 57105 genome.wustl.edu 37 13 49281162 49281162 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 49281162 49281162 C T SNP CYSLTR2 ENST00000282018 human ensembl 70_37 +1 known missense c.209 p.S70F 0.000 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors CYSLTR2 HGNC CYYR1 116159 genome.wustl.edu 37 21 27852628 27852628 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 27852628 27852628 G C SNP CYYR1 ENST00000299340 human ensembl 70_37 -1 known silent c.297 p.L99 1.000 pfam_CYYR1 pfam_CYYR1 - no_errors CYYR1 HGNC D2HGDH 728294 genome.wustl.edu 37 2 242695372 242695372 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242695372 242695372 G A SNP D2HGDH ENST00000321264 human ensembl 70_37 +1 known missense c.1249 p.D417N 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC DAAM1 23002 genome.wustl.edu 37 14 59806896 59806896 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 59806896 59806896 G C SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known silent c.2103 p.S701 0.062 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC DAAM2 23500 genome.wustl.edu 37 6 39835530 39835530 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 39835530 39835530 G A SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.673 p.A225T 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC DAB2 1601 genome.wustl.edu 37 5 39394478 39394478 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 39394478 39394478 G A SNP DAB2 ENST00000513052 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors DAB2 HGNC DACT1 51339 genome.wustl.edu 37 14 59113114 59113114 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 59113114 59113114 C G SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known silent c.1773 p.L591 0.000 NULL NULL - no_errors DACT1 HGNC DAO 1610 genome.wustl.edu 37 12 109270566 109270566 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 109270566 109270566 G C SNP DAO ENST00000548052 human ensembl 70_37 +1 known rna NULL NULL 0.089 - - - no_errors DAO HGNC DAP3 7818 genome.wustl.edu 37 1 155707959 155707959 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155707959 155707959 G C SNP DAP3 ENST00000343043 human ensembl 70_37 +1 known missense c.1123 p.E375Q 1.000 pfam_Ribosomal_S23/S29_mit pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC DAPK3 1613 genome.wustl.edu 37 19 3964264 3964264 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3964264 3964264 G C SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known missense c.531 p.I177M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC DAPK3 1613 genome.wustl.edu 37 19 3964695 3964695 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3964695 3964695 G A SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known silent c.357 p.F119 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC DAPK3 1613 genome.wustl.edu 37 19 3964824 3964824 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3964824 3964824 G A SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known silent c.228 p.I76 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC DAPL1 92196 genome.wustl.edu 37 2 159682992 159682992 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 159682992 159682992 G C SNP DAPL1 ENST00000409042 human ensembl 70_37 +1 putative missense c.292 p.D98H 0.046 NULL NULL - no_errors DAPL1 HGNC DAXX 1616 genome.wustl.edu 37 6 33286832 33286832 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33286832 33286832 G A SNP DAXX ENST00000266000 human ensembl 70_37 -1 known missense c.2105 p.S702F 0.196 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC DAXX 1616 genome.wustl.edu 37 6 33289038 33289038 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33289038 33289038 C T SNP DAXX ENST00000266000 human ensembl 70_37 -1 known missense c.514 p.E172K 0.002 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC DAZL 1618 genome.wustl.edu 37 3 16633616 16633616 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 16633616 16633616 G C SNP DAZL ENST00000399444 human ensembl 70_37 -1 known missense c.775 p.L259V 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZL HGNC DBF4 10926 genome.wustl.edu 37 7 87537145 87537145 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 87537145 87537145 G C SNP DBF4 ENST00000265728 human ensembl 70_37 +1 known missense c.1692 p.K564N 0.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC DBF4B 80174 genome.wustl.edu 37 17 42786153 42786153 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 42786153 42786153 G A SNP DBF4B ENST00000526915 human ensembl 70_37 +1 known rna NULL NULL 0.503 - - - no_errors DBF4B HGNC DBI 1622 genome.wustl.edu 37 2 120124915 120124915 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120124915 120124915 G A SNP DBI ENST00000542275 human ensembl 70_37 +1 known missense c.3 p.M1I 0.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors DBI HGNC DCAF4L1 285429 genome.wustl.edu 37 4 41984210 41984210 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 41984210 41984210 C T SNP DCAF4L1 ENST00000333141 human ensembl 70_37 +1 known missense c.401 p.S134L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC DCAF5 8816 genome.wustl.edu 37 14 69521200 69521200 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 69521200 69521200 C G SNP DCAF5 ENST00000341516 human ensembl 70_37 -1 known missense c.2203 p.E735Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC DCAF8 50717 genome.wustl.edu 37 1 160188831 160188831 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160188831 160188831 G A SNP DCAF8 ENST00000476033 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors DCAF8 HGNC DCAF8 50717 genome.wustl.edu 37 1 160208574 160208574 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160208574 160208574 G C SNP DCAF8 ENST00000466253 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DCAF8 HGNC DCAF8L1 139425 genome.wustl.edu 37 X 27997787 27997787 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 27997787 27997787 C G SNP DCAF8L1 ENST00000441525 human ensembl 70_37 -1 known silent c.1665 p.L555 0.070 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC DCHS1 8642 genome.wustl.edu 37 11 6643167 6643167 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6643167 6643167 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.9740 p.S3247L 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCT 1638 genome.wustl.edu 37 13 95095789 95095789 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 95095789 95095789 G A SNP DCT ENST00000446125 human ensembl 70_37 -1 known missense c.1381 p.R461W 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC DDIT4 54541 genome.wustl.edu 37 10 74033756 74033756 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 74033756 74033756 C T SNP DDIT4 ENST00000473155 human ensembl 70_37 +1 known rna NULL NULL 0.666 - - - no_errors DDIT4 HGNC DDR1 780 genome.wustl.edu 37 6 30866975 30866975 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30866975 30866975 G A SNP DDR1 ENST00000376575 human ensembl 70_37 +1 known missense c.2662 p.E888K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_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 DDR1 HGNC DDX20 11218 genome.wustl.edu 37 1 112303677 112303677 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 112303677 112303677 C T SNP DDX20 ENST00000369702 human ensembl 70_37 +1 known nonsense c.892 p.Q298* 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC DDX46 9879 genome.wustl.edu 37 5 134116909 134116909 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 134116909 134116909 G A SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known silent c.852 p.L284 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC DDX5 1655 genome.wustl.edu 37 17 62496313 62496313 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62496313 62496313 C G SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.1573 p.D525H 1.000 pfam_P68HR pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC DDX59 83479 genome.wustl.edu 37 1 200635689 200635689 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 200635689 200635689 G A SNP DDX59 ENST00000331314 human ensembl 70_37 -1 known silent c.180 p.C60 0.003 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC DEFB123 245936 genome.wustl.edu 37 20 30028540 30028540 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 30028540 30028540 C G SNP DEFB123 ENST00000376309 human ensembl 70_37 +1 known silent c.39 p.L13 0.998 NULL NULL - no_errors DEFB123 HGNC DENND3 22898 genome.wustl.edu 37 8 142200469 142200469 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 142200469 142200469 G A SNP DENND3 ENST00000262585 human ensembl 70_37 +1 known missense c.3092 p.R1031Q 0.153 superfamily_WD40_repeat_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC DENND4A 10260 genome.wustl.edu 37 15 65994801 65994801 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65994801 65994801 G C SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.2272 p.Q758E 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC DEPDC4 120863 genome.wustl.edu 37 12 100657593 100657593 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 100657593 100657593 C G SNP DEPDC4 ENST00000378244 human ensembl 70_37 -1 known missense c.236 p.R79T 0.998 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC DERL3 91319 genome.wustl.edu 37 22 24180756 24180756 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 24180756 24180756 G C SNP DERL3 ENST00000404056 human ensembl 70_37 -1 novel missense c.241 p.L81V 0.995 NULL pfam_DER1 - no_errors DERL3 HGNC DFNB59 494513 genome.wustl.edu 37 2 179325119 179325119 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179325119 179325119 G A SNP DFNB59 ENST00000375129 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNB59 HGNC DGAT1 8694 genome.wustl.edu 37 8 145540570 145540570 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145540570 145540570 C A SNP DGAT1 ENST00000526479 human ensembl 70_37 -1 novel nonsense c.760 p.E254* 1.000 NULL superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC DGKG 1608 genome.wustl.edu 37 3 185906061 185906061 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 185906061 185906061 C G SNP DGKG ENST00000265022 human ensembl 70_37 -1 known missense c.2025 p.K675N 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 DGKG HGNC DGKK 139189 genome.wustl.edu 37 X 50213446 50213446 + RNA SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 50213446 50213446 A G SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors DGKK HGNC DGKZ 8525 genome.wustl.edu 37 11 46388884 46388884 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 46388884 46388884 C T SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.772 p.P258S 0.005 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC DGKZ 8525 genome.wustl.edu 37 11 46389291 46389291 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 46389291 46389291 G C SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.927 p.R309S 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC DHODH 1723 genome.wustl.edu 37 16 72051002 72051002 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 72051002 72051002 G A SNP DHODH ENST00000219240 human ensembl 70_37 +1 known missense c.514 p.E172K 0.064 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC DHTKD1 55526 genome.wustl.edu 37 10 12142234 12142234 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 12142234 12142234 C G SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known missense c.1729 p.L577V 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC DHX15 1665 genome.wustl.edu 37 4 24578195 24578195 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 24578195 24578195 C G SNP DHX15 ENST00000336812 human ensembl 70_37 -1 known missense c.178 p.E60Q 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC DHX29 54505 genome.wustl.edu 37 5 54567958 54567958 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 54567958 54567958 C T SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known missense c.2821 p.D941N 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC DHX35 60625 genome.wustl.edu 37 20 37653956 37653956 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 37653956 37653956 G A SNP DHX35 ENST00000252011 human ensembl 70_37 +1 known silent c.1755 p.L585 1.000 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC DHX36 170506 genome.wustl.edu 37 3 154024010 154024010 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 154024010 154024010 G T SNP DHX36 ENST00000496811 human ensembl 70_37 -1 known silent c.888 p.L296 0.772 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC DIEXF 27042 genome.wustl.edu 37 1 210010194 210010194 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 210010194 210010194 G A SNP DIEXF ENST00000491415 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 NULL pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC DIP2B 57609 genome.wustl.edu 37 12 51064986 51064986 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 51064986 51064986 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.445 p.E149K 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC DIP2B 57609 genome.wustl.edu 37 12 51065063 51065063 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 51065063 51065063 G C SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.522 p.W174C 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC DLEC1 9940 genome.wustl.edu 37 3 38101276 38101276 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 38101276 38101276 G A SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.606 p.R202 0.047 NULL superfamily_PapD-like - no_errors DLEC1 HGNC DLG5 9231 genome.wustl.edu 37 10 79593787 79593787 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 79593787 79593787 C G SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.1633 p.D545H 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DLK1 8788 genome.wustl.edu 37 14 101200864 101200864 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101200864 101200864 C G SNP DLK1 ENST00000341267 human ensembl 70_37 +1 known silent c.783 p.G261 0.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors DLK1 HGNC DLL1 28514 genome.wustl.edu 37 6 170593005 170593005 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 170593005 170593005 G A SNP DLL1 ENST00000366756 human ensembl 70_37 -1 known silent c.1362 p.N454 0.821 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC DLL4 54567 genome.wustl.edu 37 15 41222245 41222245 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41222245 41222245 C T SNP DLL4 ENST00000249749 human ensembl 70_37 +1 known silent c.267 p.F89 1.000 pfam_Notch_ligand_N,superfamily_Growth_fac_rcpt pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC DLX2 1746 genome.wustl.edu 37 2 172965437 172965437 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172965437 172965437 G C SNP DLX2 ENST00000234198 human ensembl 70_37 -1 known missense c.821 p.S274W 0.999 NULL pfam_Homeodomain,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC DMD 1756 genome.wustl.edu 37 X 31893427 31893427 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 31893427 31893427 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.6976 p.L2326F 0.926 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAAF2 55172 genome.wustl.edu 37 14 50100096 50100096 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50100096 50100096 G A SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known missense c.1772 p.S591L 0.246 NULL pfam_PIH - no_errors DNAAF2 HGNC DNAAF3 352909 genome.wustl.edu 37 19 55672075 55672075 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55672075 55672075 C G SNP DNAAF3 ENST00000527223 human ensembl 70_37 -1 known silent c.1185 p.A395 0.015 NULL NULL - no_errors DNAAF3 HGNC DNAH1 25981 genome.wustl.edu 37 3 52387228 52387228 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52387228 52387228 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.3137 p.S1046C 0.911 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52396472 52396472 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52396472 52396472 G C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5049 p.M1683I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52396480 52396480 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52396480 52396480 G C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5057 p.G1686A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52398683 52398683 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52398683 52398683 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.5274 p.V1758 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH11 8701 genome.wustl.edu 37 7 21726796 21726796 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 21726796 21726796 G C SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.5722 p.E1908Q 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH17 8632 genome.wustl.edu 37 17 76570852 76570852 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 76570852 76570852 G C SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.288 p.L96 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAH2 146754 genome.wustl.edu 37 17 7643227 7643227 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7643227 7643227 G C SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.1347 p.K449N 1.000 pfam_Dynein_heavy_dom-1 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 DNAH3 55567 genome.wustl.edu 37 16 20975884 20975884 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 20975884 20975884 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.9322 p.D3108N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH3 55567 genome.wustl.edu 37 16 21053505 21053505 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 21053505 21053505 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.4482 p.V1494 0.588 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH5 1767 genome.wustl.edu 37 5 13841827 13841827 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 13841827 13841827 C T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.5458 p.E1820K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAH6 1768 genome.wustl.edu 37 2 84848475 84848475 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 84848475 84848475 C G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.3953 p.S1318C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH7 56171 genome.wustl.edu 37 2 196729379 196729379 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 196729379 196729379 G C SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.7000 p.R2334G 0.860 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNAH8 1769 genome.wustl.edu 37 6 38790648 38790648 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 38790648 38790648 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known silent c.2907 p.L969 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAJB4 11080 genome.wustl.edu 37 1 78444880 78444880 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 78444880 78444880 G C SNP DNAJB4 ENST00000487931 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DNAJB4 HGNC DNAJC10 54431 genome.wustl.edu 37 2 183616895 183616895 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 183616895 183616895 C T SNP DNAJC10 ENST00000264065 human ensembl 70_37 +1 known missense c.1531 p.H511Y 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin - no_errors DNAJC10 HGNC DNAJC13 23317 genome.wustl.edu 37 3 132172997 132172997 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 132172997 132172997 G C SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC DNAJC17 55192 genome.wustl.edu 37 15 41071455 41071455 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41071455 41071455 C A SNP DNAJC17 ENST00000220496 human ensembl 70_37 -1 known missense c.261 p.Q87H 1.000 NULL pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC17 HGNC DNAJC17 55192 genome.wustl.edu 37 15 41071466 41071466 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41071466 41071466 C G SNP DNAJC17 ENST00000220496 human ensembl 70_37 -1 known missense c.250 p.E84Q 1.000 superfamily_DnaJ_N pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC17 HGNC DNAJC18 202052 genome.wustl.edu 37 5 138755781 138755781 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 138755781 138755781 C G SNP DNAJC18 ENST00000302060 human ensembl 70_37 -1 known missense c.913 p.D305H 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC18 HGNC DNAJC21 134218 genome.wustl.edu 37 5 34937497 34937497 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 34937497 34937497 G A SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.505 p.E169K 1.000 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC DNHD1 144132 genome.wustl.edu 37 11 6580204 6580204 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6580204 6580204 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.9284 p.S3095L 1.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC DNTTIP2 30836 genome.wustl.edu 37 1 94342116 94342116 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94342116 94342116 C G SNP DNTTIP2 ENST00000436063 human ensembl 70_37 -1 known missense c.1375 p.E459Q 1.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC DNTTIP2 30836 genome.wustl.edu 37 1 94342815 94342815 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94342815 94342815 C G SNP DNTTIP2 ENST00000436063 human ensembl 70_37 -1 known missense c.676 p.E226Q 0.412 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC DOCK11 139818 genome.wustl.edu 37 X 117731498 117731498 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 117731498 117731498 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.2368 p.D790N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DOCK2 1794 genome.wustl.edu 37 5 169125422 169125422 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169125422 169125422 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.1024 p.E342K 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC DOCK2 1794 genome.wustl.edu 37 5 169506072 169506072 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169506072 169506072 G C SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known silent c.5088 p.R1696 0.744 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC DOCK3 1795 genome.wustl.edu 37 3 51393850 51393850 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51393850 51393850 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.4429 p.E1477Q 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC DOCK3 1795 genome.wustl.edu 37 3 51393915 51393915 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51393915 51393915 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.4494 p.R1498S 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC DOCK3 1795 genome.wustl.edu 37 3 51418883 51418883 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51418883 51418883 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.5986 p.E1996Q 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC DOCK3 1795 genome.wustl.edu 37 3 51418899 51418899 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51418899 51418899 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.6002 p.R2001P 0.994 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC DOCK4 9732 genome.wustl.edu 37 7 111629071 111629071 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 111629071 111629071 C G SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.463 p.E155Q 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC DOCK6 57572 genome.wustl.edu 37 19 11362920 11362920 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 11362920 11362920 G C SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.382 p.Q128E 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC DOCK7 85440 genome.wustl.edu 37 1 62976295 62976295 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 62976295 62976295 C G SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.4305 p.W1435C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC DOCK8 81704 genome.wustl.edu 37 9 334240 334240 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 334240 334240 G C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.1141 p.E381Q 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DOCK8 81704 genome.wustl.edu 37 9 421049 421049 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 421049 421049 G C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.4124 p.R1375T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DOCK8 81704 genome.wustl.edu 37 9 463533 463533 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 463533 463533 G C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.6085 p.E2029Q 0.998 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DOK6 220164 genome.wustl.edu 37 18 67344975 67344975 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 67344975 67344975 G C SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known missense c.295 p.E99Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC DOPEY1 23033 genome.wustl.edu 37 6 83848232 83848232 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 83848232 83848232 G C SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.4471 p.E1491Q 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC DOT1L 84444 genome.wustl.edu 37 19 2226517 2226517 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2226517 2226517 G A SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.3997 p.D1333N 0.955 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC DPCR1 135656 genome.wustl.edu 37 6 30917485 30917485 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30917485 30917485 C G SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel nonsense c.1244 p.S415* 0.000 NULL NULL - no_errors DPCR1 HGNC DPEP3 64180 genome.wustl.edu 37 16 68009858 68009858 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 68009858 68009858 G A SNP DPEP3 ENST00000268793 human ensembl 70_37 -1 known missense c.1352 p.P451L 0.952 NULL pfam_Peptidase_M19 - no_errors DPEP3 HGNC DPH3 285381 genome.wustl.edu 37 3 16306188 16306188 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 16306188 16306188 G A SNP DPH3 ENST00000285082 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors DPH3 HGNC DPM3 54344 genome.wustl.edu 37 1 155112441 155112441 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155112441 155112441 G A SNP DPM3 ENST00000368399 human ensembl 70_37 -1 known silent c.366 p.F122 1.000 NULL pfam_DPM3 - no_errors DPM3 HGNC DPP8 54878 genome.wustl.edu 37 15 65743356 65743356 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65743356 65743356 C G SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known missense c.2555 p.G852A 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC DPPA4 55211 genome.wustl.edu 37 3 109056348 109056348 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 109056348 109056348 G C SNP DPPA4 ENST00000335658 human ensembl 70_37 -1 known missense c.17 p.A6G 0.000 NULL NULL - no_errors DPPA4 HGNC DPRX 503834 genome.wustl.edu 37 19 54140205 54140205 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 54140205 54140205 C G SNP DPRX ENST00000376650 human ensembl 70_37 +1 known missense c.539 p.S180C 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors DPRX HGNC DPYSL3 1809 genome.wustl.edu 37 5 146792219 146792219 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 146792219 146792219 C T SNP DPYSL3 ENST00000398514 human ensembl 70_37 -1 known silent c.573 p.L191 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC DPYSL5 56896 genome.wustl.edu 37 2 27150209 27150209 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27150209 27150209 G A SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.509 p.R170Q 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC DPYSL5 56896 genome.wustl.edu 37 2 27169819 27169819 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27169819 27169819 C T SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.1651 p.R551W 0.999 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC DRD3 1814 genome.wustl.edu 37 3 113850143 113850143 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113850143 113850143 C G SNP DRD3 ENST00000383673 human ensembl 70_37 -1 known missense c.828 p.L276F 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC DROSHA 29102 genome.wustl.edu 37 5 31409384 31409384 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 31409384 31409384 C G SNP DROSHA ENST00000344624 human ensembl 70_37 -1 known missense c.3723 p.M1241I 1.000 superfamily_RNase_III_dom,smart_RNase_III_dom pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC DSE 29940 genome.wustl.edu 37 6 116756828 116756828 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 116756828 116756828 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1254 p.V418 0.855 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC DST 667 genome.wustl.edu 37 6 56465020 56465020 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56465020 56465020 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known splice_site c.11449-1 e45-1 1.000 - - - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56469029 56469029 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56469029 56469029 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10298 p.R3433T 0.981 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56504497 56504497 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56504497 56504497 G C SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.2595 p.L865 0.907 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56707877 56707877 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56707877 56707877 C G SNP DST ENST00000370769 human ensembl 70_37 -1 known missense c.67 p.E23Q 1.000 superfamily_CH-domain pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DTNA 1837 genome.wustl.edu 37 18 32398254 32398254 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 32398254 32398254 C G SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.836 p.S279C 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC DUOX2 50506 genome.wustl.edu 37 15 45404065 45404065 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 45404065 45404065 G A SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known silent c.414 p.P138 0.003 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC DUSP26 78986 genome.wustl.edu 37 8 33454935 33454935 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 33454935 33454935 C T SNP DUSP26 ENST00000256261 human ensembl 70_37 -1 known silent c.99 p.E33 0.994 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC DUSP27 92235 genome.wustl.edu 37 1 167097351 167097351 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 167097351 167097351 G C SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known missense c.2983 p.E995Q 0.005 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC DUSP7 1849 genome.wustl.edu 37 3 52087974 52087974 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52087974 52087974 C G SNP DUSP7 ENST00000296483 human ensembl 70_37 -1 known missense c.781 p.E261Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP7 HGNC DVL1 1855 genome.wustl.edu 37 1 1273930 1273930 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1273930 1273930 G C SNP DVL1 ENST00000378888 human ensembl 70_37 -1 known silent c.1311 p.L437 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102510323 102510323 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 102510323 102510323 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.12625 p.E4209K 1.000 pfam_Dynein_heavy_dom,superfamily_Glutathione-S-Trfase_C-like pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103043833 103043833 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 103043833 103043833 G A SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.5357 p.G1786E 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC DYRK1A 1859 genome.wustl.edu 37 21 38862731 38862731 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 38862731 38862731 G A SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.919 p.D307N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC DYRK1B 9149 genome.wustl.edu 37 19 40319105 40319105 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40319105 40319105 C G SNP DYRK1B ENST00000323039 human ensembl 70_37 -1 known silent c.639 p.L213 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1B HGNC DZIP1 22873 genome.wustl.edu 37 13 96239958 96239958 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 96239958 96239958 C T SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.2053 p.E685K 0.861 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC DZIP3 9666 genome.wustl.edu 37 3 108392964 108392964 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 108392964 108392964 C A SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.2629 p.H877N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC E2F3 1871 genome.wustl.edu 37 6 20480168 20480168 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 20480168 20480168 G A SNP E2F3 ENST00000346618 human ensembl 70_37 +1 known missense c.485 p.R162Q 0.993 NULL pfam_E2F_TDP - no_errors E2F3 HGNC E2F5 1875 genome.wustl.edu 37 8 86089801 86089801 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 86089801 86089801 G A SNP E2F5 ENST00000256117 human ensembl 70_37 +1 known missense c.146 p.S49N 1.000 NULL pfam_E2F_TDP - no_errors E2F5 HGNC E2F7 144455 genome.wustl.edu 37 12 77421816 77421816 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 77421816 77421816 C G SNP E2F7 ENST00000322886 human ensembl 70_37 -1 known missense c.1987 p.E663Q 0.006 NULL pfam_E2F_TDP - no_errors E2F7 HGNC EBF3 253738 genome.wustl.edu 37 10 131760527 131760527 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 131760527 131760527 G C SNP EBF3 ENST00000471715 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EBF3 HGNC EBF4 57593 genome.wustl.edu 37 20 2686251 2686251 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2686251 2686251 G C SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.466 p.E156Q 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC ECE2 9718 genome.wustl.edu 37 3 184001666 184001666 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184001666 184001666 G A SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.1264 p.E422K 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ECI1 1632 genome.wustl.edu 37 16 2293398 2293398 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2293398 2293398 C T SNP ECI1 ENST00000301729 human ensembl 70_37 -1 known missense c.484 p.D162N 0.999 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECI1 HGNC EEF1A2 1917 genome.wustl.edu 37 20 62126344 62126344 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 62126344 62126344 C T SNP EEF1A2 ENST00000217182 human ensembl 70_37 -1 known silent c.435 p.V145 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC EEF1DP3 196549 genome.wustl.edu 37 13 32526817 32526817 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 32526817 32526817 C G SNP EEF1DP3 ENST00000428783 human ensembl 70_37 +1 known rna NULL NULL 0.766 - - - no_errors EEF1DP3 HGNC EEF2 1938 genome.wustl.edu 37 19 3984204 3984204 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3984204 3984204 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known missense c.148 p.R50W 1.000 pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC EFCAB9 285588 genome.wustl.edu 37 5 171630308 171630308 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 171630308 171630308 G C SNP EFCAB9 ENST00000398186 human ensembl 70_37 +1 known missense c.553 p.E185Q 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB9 HGNC EFNA5 1946 genome.wustl.edu 37 5 106716965 106716965 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 106716965 106716965 C T SNP EFNA5 ENST00000333274 human ensembl 70_37 -1 known silent c.678 p.L226 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC EFR3B 22979 genome.wustl.edu 37 2 25315919 25315919 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 25315919 25315919 C G SNP EFR3B ENST00000403714 human ensembl 70_37 +1 known silent c.132 p.L44 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC EFTUD1 79631 genome.wustl.edu 37 15 82551473 82551473 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 82551473 82551473 G A SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known missense c.115 p.L39F 1.000 pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom 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 EFTUD1P1 648809 genome.wustl.edu 37 15 84748921 84748921 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 84748921 84748921 G C SNP EFTUD1P1 ENST00000558187 human ensembl 70_37 +1 known rna NULL NULL 0.173 - - - no_errors EFTUD1P1 HGNC EHMT1 79813 genome.wustl.edu 37 9 140729282 140729282 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140729282 140729282 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known silent c.3774 p.C1258 0.978 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC EIF2AK1 27102 genome.wustl.edu 37 7 6066550 6066550 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 6066550 6066550 G A SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known nonsense c.1573 p.Q525* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC EIF3C 8663 genome.wustl.edu 37 16 28734509 28734509 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 28734509 28734509 G C SNP EIF3C ENST00000331666 human ensembl 70_37 +1 known missense c.801 p.K267N 1.000 pfam_eIF3c_N pfam_eIF3c_N,pfam_PCI_dom,smart_PCI_dom - no_errors EIF3C HGNC EIF3I 8668 genome.wustl.edu 37 1 32694789 32694789 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 32694789 32694789 G T SNP EIF3I ENST00000373586 human ensembl 70_37 +1 known missense c.783 p.R261S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC EIF4A1 1973 genome.wustl.edu 37 17 7478464 7478464 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7478464 7478464 C A SNP EIF4A1 ENST00000293831 human ensembl 70_37 +1 known missense c.233 p.S78Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC EIF4E3 317649 genome.wustl.edu 37 3 71777666 71777666 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 71777666 71777666 G C SNP EIF4E3 ENST00000468147 human ensembl 70_37 -1 known rna NULL NULL 0.411 - - - no_errors EIF4E3 HGNC EIF5B 9669 genome.wustl.edu 37 2 100013320 100013320 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 100013320 100013320 C T SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known nonsense c.3352 p.Q1118* 0.994 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ELAVL2 1993 genome.wustl.edu 37 9 23701541 23701541 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 23701541 23701541 G C SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known missense c.633 p.I211M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ELAVL2 1993 genome.wustl.edu 37 9 23762104 23762104 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 23762104 23762104 G A SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known silent c.213 p.V71 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ELF3 1999 genome.wustl.edu 37 1 201983060 201983060 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201983060 201983060 C T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known silent c.909 p.F303 1.000 pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ELMSAN1 91748 genome.wustl.edu 37 14 74196685 74196685 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 74196685 74196685 C G SNP ELMSAN1 ENST00000286523 human ensembl 70_37 -1 known missense c.1753 p.E585Q 0.555 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ELOVL1 64834 genome.wustl.edu 37 1 43829599 43829599 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 43829599 43829599 G A SNP ELOVL1 ENST00000372458 human ensembl 70_37 -1 known silent c.828 p.V276 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL1 HGNC ELP2 55250 genome.wustl.edu 37 18 33740957 33740957 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 33740957 33740957 C T SNP ELP2 ENST00000358232 human ensembl 70_37 +1 known missense c.1751 p.S584L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC EMC4 51234 genome.wustl.edu 37 15 34521913 34521913 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34521913 34521913 C G SNP EMC4 ENST00000561246 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EMC4 HGNC EMC4 51234 genome.wustl.edu 37 15 34521944 34521944 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34521944 34521944 C G SNP EMC4 ENST00000561246 human ensembl 70_37 +1 known rna NULL NULL 0.821 - - - no_errors EMC4 HGNC EMC4 51234 genome.wustl.edu 37 15 34522116 34522116 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34522116 34522116 C T SNP EMC4 ENST00000560000 human ensembl 70_37 +1 putative silent c.249 p.F83 0.000 NULL NULL - no_errors EMC4 HGNC EML1 2009 genome.wustl.edu 37 14 100402637 100402637 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 100402637 100402637 C T SNP EML1 ENST00000334192 human ensembl 70_37 +1 known silent c.2118 p.L706 0.931 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC EML1 2009 genome.wustl.edu 37 14 100402642 100402642 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 100402642 100402642 C G SNP EML1 ENST00000334192 human ensembl 70_37 +1 known nonsense c.2123 p.S708* 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC EML2 24139 genome.wustl.edu 37 19 46144973 46144973 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46144973 46144973 G C SNP EML2 ENST00000587152 human ensembl 70_37 -1 known silent c.549 p.L183 0.612 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC EMR3 84658 genome.wustl.edu 37 19 14779548 14779548 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14779548 14779548 G C SNP EMR3 ENST00000595472 human ensembl 70_37 -1 putative missense c.142 p.L48V 0.000 NULL NULL - no_errors EMR3 HGNC EMR3 84658 genome.wustl.edu 37 19 14779642 14779642 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14779642 14779642 G C SNP EMR3 ENST00000253673 human ensembl 70_37 -1 known silent c.48 p.L16 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENKD1 84080 genome.wustl.edu 37 16 67700140 67700140 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67700140 67700140 C T SNP ENKD1 ENST00000243878 human ensembl 70_37 -1 known silent c.114 p.L38 1.000 NULL NULL - no_errors ENKD1 HGNC ENO3 2027 genome.wustl.edu 37 17 4859940 4859940 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4859940 4859940 C T SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known silent c.1140 p.F380 1.000 pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENPP2 5168 genome.wustl.edu 37 8 120596225 120596225 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 120596225 120596225 C G SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.1588 p.D530H 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENPP2 5168 genome.wustl.edu 37 8 120628552 120628552 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 120628552 120628552 G A SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known silent c.730 p.L244 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENPP4 22875 genome.wustl.edu 37 6 46111060 46111060 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 46111060 46111060 C G SNP ENPP4 ENST00000321037 human ensembl 70_37 +1 known missense c.1045 p.L349V 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENPP7 339221 genome.wustl.edu 37 17 77708977 77708977 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 77708977 77708977 G A SNP ENPP7 ENST00000328313 human ensembl 70_37 +1 known missense c.535 p.V179M 1.000 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000141854 0 genome.wustl.edu 37 19 14184042 14184042 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14184042 14184042 C G SNP ENSG00000141854 ENST00000269720 human ensembl 70_37 +1 known missense c.347 p.S116C 0.011 NULL NULL - no_errors CTB-55O6.8 Clone_based_vega_gene ENSG00000176584 0 genome.wustl.edu 37 10 124488978 124488978 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124488978 124488978 G T SNP ENSG00000176584 ENST00000435147 human ensembl 70_37 +1 known rna NULL NULL 0.410 - - - no_errors RP11-107C16.2 Clone_based_vega_gene ENSG00000188002 0 genome.wustl.edu 37 5 1632866 1632866 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 1632866 1632866 C T SNP ENSG00000188002 ENST00000343123 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors RP11-43F13.1 Clone_based_vega_gene ENSG00000188242 0 genome.wustl.edu 37 5 472834 472834 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 472834 472834 C T SNP ENSG00000188242 ENST00000342584 human ensembl 70_37 -1 putative missense c.217 p.E73K 0.001 NULL NULL - no_errors CTD-2228K2.5 Clone_based_vega_gene ENSG00000188474 0 genome.wustl.edu 37 19 12223501 12223501 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12223501 12223501 G C SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1139 p.C380S 0.287 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000197210 0 genome.wustl.edu 37 22 21477296 21477296 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21477296 21477296 C T SNP ENSG00000197210 ENST00000420508 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000201619 0 genome.wustl.edu 37 1 179170738 179170738 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179170738 179170738 C G SNP ENSG00000201619 ENST00000364749 human ensembl 70_37 +1 novel rna NULL NULL 0.040 - - - no_errors SNORA67 RFAM ENSG00000203863 0 genome.wustl.edu 37 6 89675584 89675584 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 89675584 89675584 G C SNP ENSG00000203863 ENST00000369474 human ensembl 70_37 +1 known missense c.223 p.D75H 0.012 NULL NULL - no_errors AL079342.1 Clone_based_ensembl_gene ENSG00000205233 0 genome.wustl.edu 37 7 102313438 102313438 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102313438 102313438 G C SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known missense c.371 p.T124S 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000213225 0 genome.wustl.edu 37 2 130989289 130989289 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 130989289 130989289 G C SNP ENSG00000213225 ENST00000450578 human ensembl 70_37 +1 known rna NULL NULL 0.796 - - - no_errors AC018804.7 Clone_based_vega_gene ENSG00000213492 0 genome.wustl.edu 37 4 118496714 118496714 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 118496714 118496714 C A SNP ENSG00000213492 ENST00000441170 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors AC092661.2 Clone_based_vega_gene ENSG00000215158 0 genome.wustl.edu 37 5 34175616 34175616 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 34175616 34175616 G A SNP ENSG00000215158 ENST00000514048 human ensembl 70_37 -1 known rna NULL NULL 0.123 - - - no_errors RP11-1023L17.1 Clone_based_vega_gene ENSG00000215304 0 genome.wustl.edu 37 15 32716848 32716848 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 32716848 32716848 G C SNP ENSG00000215304 ENST00000321578 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-395E19.3 Clone_based_vega_gene ENSG00000218819 0 genome.wustl.edu 37 2 21363254 21363254 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21363254 21363254 C G SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.2915 p.S972C 0.989 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 0 genome.wustl.edu 37 2 21365422 21365422 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21365422 21365422 C A SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.5083 p.P1695T 0.000 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000224713 0 genome.wustl.edu 37 12 58007421 58007421 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 58007421 58007421 G A SNP ENSG00000224713 ENST00000356672 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC025165.8 Clone_based_vega_gene ENSG00000224870 0 genome.wustl.edu 37 1 1335601 1335601 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1335601 1335601 C T SNP ENSG00000224870 ENST00000448629 human ensembl 70_37 +1 putative nonsense c.202 p.R68* 0.000 NULL NULL - no_errors RP4-758J18.2 Clone_based_vega_gene ENSG00000225425 0 genome.wustl.edu 37 9 132677340 132677340 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 132677340 132677340 C G SNP ENSG00000225425 ENST00000447586 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-409K20.8 Clone_based_vega_gene ENSG00000225872 0 genome.wustl.edu 37 19 36281675 36281675 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36281675 36281675 G A SNP ENSG00000225872 ENST00000433059 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.5 Clone_based_vega_gene ENSG00000226668 0 genome.wustl.edu 37 9 95647673 95647673 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 95647673 95647673 C G SNP ENSG00000226668 ENST00000446878 human ensembl 70_37 +1 putative rna NULL NULL 0.011 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 0 genome.wustl.edu 37 9 95647734 95647734 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 95647734 95647734 C T SNP ENSG00000226668 ENST00000446878 human ensembl 70_37 +1 putative rna NULL NULL 0.011 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000229481 0 genome.wustl.edu 37 19 38321686 38321686 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38321686 38321686 G C SNP ENSG00000229481 ENST00000443870 human ensembl 70_37 +1 known rna NULL NULL 0.854 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229732 0 genome.wustl.edu 37 17 39658603 39658603 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39658603 39658603 G T SNP ENSG00000229732 ENST00000411759 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC019349.5 Clone_based_vega_gene ENSG00000229895 0 genome.wustl.edu 37 1 116916774 116916774 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 116916774 116916774 G C SNP ENSG00000229895 ENST00000432281 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP4-655J12.3 Clone_based_vega_gene ENSG00000230408 0 genome.wustl.edu 37 2 201676637 201676637 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201676637 201676637 C T SNP ENSG00000230408 ENST00000447972 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC007163.6 Clone_based_vega_gene ENSG00000230572 0 genome.wustl.edu 37 2 91894188 91894188 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 91894188 91894188 C G SNP ENSG00000230572 ENST00000436174 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC027612.3 Clone_based_vega_gene ENSG00000233178 0 genome.wustl.edu 37 9 71012048 71012048 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 71012048 71012048 C G SNP ENSG00000233178 ENST00000590767 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-88I18.2 Clone_based_vega_gene ENSG00000234719 0 genome.wustl.edu 37 16 12027502 12027502 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 12027502 12027502 C G SNP ENSG00000234719 ENST00000399147 human ensembl 70_37 -1 putative silent c.360 p.L120 0.106 pfam_NPIP pfam_NPIP - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234828 0 genome.wustl.edu 37 4 150354662 150354662 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 150354662 150354662 C G SNP ENSG00000234828 ENST00000506683 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-526A4.1 Clone_based_vega_gene ENSG00000243305 0 genome.wustl.edu 37 3 152175738 152175738 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 152175738 152175738 G T SNP ENSG00000243305 ENST00000463255 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-362A9.3 Clone_based_vega_gene ENSG00000243536 0 genome.wustl.edu 37 10 47634765 47634765 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 47634765 47634765 G A SNP ENSG00000243536 ENST00000454837 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-292F22.6 Clone_based_vega_gene ENSG00000244681 0 genome.wustl.edu 37 3 95374458 95374458 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 95374458 95374458 G T SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000245317 0 genome.wustl.edu 37 5 179287538 179287538 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 179287538 179287538 C G SNP ENSG00000245317 ENST00000499601 human ensembl 70_37 +1 putative missense c.229 p.Q77E 0.002 NULL NULL - no_errors CTC-241N9.1 Clone_based_vega_gene ENSG00000248839 0 genome.wustl.edu 37 3 98241652 98241652 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 98241652 98241652 G A SNP ENSG00000248839 ENST00000502999 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-227H4.5 Clone_based_vega_gene ENSG00000250404 0 genome.wustl.edu 37 11 3838432 3838432 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 3838432 3838432 C G SNP ENSG00000250404 ENST00000507938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC090587.2 Clone_based_vega_gene ENSG00000251209 0 genome.wustl.edu 37 15 98417423 98417423 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 98417423 98417423 G C SNP ENSG00000251209 ENST00000503768 human ensembl 70_37 -1 known silent c.93 p.L31 0.000 NULL NULL - no_errors RP11-82I10.1 Clone_based_vega_gene ENSG00000253125 0 genome.wustl.edu 37 8 22547822 22547822 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 22547822 22547822 G A SNP ENSG00000253125 ENST00000523627 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-459E5.1 Clone_based_vega_gene ENSG00000253200 0 genome.wustl.edu 37 8 22471894 22471894 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 22471894 22471894 C G SNP ENSG00000253200 ENST00000521025 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000254665 0 genome.wustl.edu 37 11 8714978 8714978 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 8714978 8714978 C A SNP ENSG00000254665 ENST00000529883 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-152H18.3 Clone_based_vega_gene ENSG00000256349 0 genome.wustl.edu 37 11 66283047 66283047 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 66283047 66283047 G C SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.580 p.E194Q 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000257513 0 genome.wustl.edu 37 18 11639355 11639355 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 11639355 11639355 C T SNP ENSG00000257513 ENST00000547442 human ensembl 70_37 -1 known rna NULL NULL 0.560 - - - no_errors RP11-677O4.1 Clone_based_vega_gene ENSG00000257743 0 genome.wustl.edu 37 7 141833904 141833904 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 141833904 141833904 G C SNP ENSG00000257743 ENST00000550469 human ensembl 70_37 +1 novel missense c.699 p.M233I 0.650 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glycoside_hydrolase_SF,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 0 genome.wustl.edu 37 7 141889220 141889220 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 141889220 141889220 C T SNP ENSG00000257743 ENST00000550494 human ensembl 70_37 +1 known nonsense c.1042 p.Q348* 0.364 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000258727 0 genome.wustl.edu 37 14 24030665 24030665 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24030665 24030665 G A SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000259583 0 genome.wustl.edu 37 15 101455008 101455008 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 101455008 101455008 C T SNP ENSG00000259583 ENST00000560068 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-66B24.4 Clone_based_vega_gene ENSG00000260078 0 genome.wustl.edu 37 16 53404088 53404088 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53404088 53404088 C T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-44F14.1 Clone_based_vega_gene ENSG00000260078 0 genome.wustl.edu 37 16 53404808 53404808 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53404808 53404808 C T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-44F14.1 Clone_based_vega_gene ENSG00000260599 0 genome.wustl.edu 37 19 22707492 22707492 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 22707492 22707492 C T SNP ENSG00000260599 ENST00000562262 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors CTC-457E21.1 Clone_based_vega_gene ENSG00000260628 0 genome.wustl.edu 37 16 31997664 31997664 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31997664 31997664 G A SNP ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260989 0 genome.wustl.edu 37 16 1660174 1660174 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1660174 1660174 C T SNP ENSG00000260989 ENST00000563162 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LA16c-395F10.2 Clone_based_vega_gene ENSG00000262557 0 genome.wustl.edu 37 16 53526558 53526558 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53526558 53526558 G A SNP ENSG00000262557 ENST00000571523 human ensembl 70_37 -1 known rna NULL NULL 0.930 - - - no_errors RP11-44F14.11 Clone_based_vega_gene ENSG00000264673 0 genome.wustl.edu 37 17 16692371 16692371 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 16692371 16692371 G C SNP ENSG00000264673 ENST00000578710 human ensembl 70_37 -1 known rna NULL NULL 0.165 - - - no_errors RP11-92B11.3 Clone_based_vega_gene ENSG00000265798 0 genome.wustl.edu 37 17 29369075 29369075 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29369075 29369075 G A SNP ENSG00000265798 ENST00000581652 human ensembl 70_37 -1 known rna NULL NULL 0.733 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000265798 0 genome.wustl.edu 37 17 29369083 29369083 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29369083 29369083 G C SNP ENSG00000265798 ENST00000581652 human ensembl 70_37 -1 known rna NULL NULL 0.842 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000266999 0 genome.wustl.edu 37 17 34234194 34234194 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 34234194 34234194 C G SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000267092 0 genome.wustl.edu 37 19 1508422 1508422 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 1508422 1508422 G A SNP ENSG00000267092 ENST00000590252 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTB-25B13.9 Clone_based_vega_gene ENSG00000267105 0 genome.wustl.edu 37 19 10370507 10370507 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10370507 10370507 G A SNP ENSG00000267105 ENST00000587088 human ensembl 70_37 -1 known rna NULL NULL 0.112 - - - no_errors CTD-2369P2.4 Clone_based_vega_gene ENSG00000267198 0 genome.wustl.edu 37 17 43626600 43626600 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43626600 43626600 C G SNP ENSG00000267198 ENST00000590995 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-798G7.6 Clone_based_vega_gene ENSG00000267243 0 genome.wustl.edu 37 19 29213613 29213613 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 29213613 29213613 C G SNP ENSG00000267243 ENST00000590072 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC005307.3 Clone_based_vega_gene ENSG00000267568 0 genome.wustl.edu 37 17 74946467 74946467 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74946467 74946467 G C SNP ENSG00000267568 ENST00000585902 human ensembl 70_37 -1 known rna NULL NULL 0.948 - - - no_errors RP11-87G24.3 Clone_based_vega_gene ENSG00000267660 0 genome.wustl.edu 37 16 67977544 67977544 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67977544 67977544 G C SNP ENSG00000267660 ENST00000590594 human ensembl 70_37 -1 known rna NULL NULL 0.348 - - - no_errors CTC-479C5.17 Clone_based_vega_gene ENSG00000269148 0 genome.wustl.edu 37 19 46333530 46333530 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46333530 46333530 C G SNP ENSG00000269148 ENST00000601618 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC092301.3 Clone_based_vega_gene ENSG00000269208 0 genome.wustl.edu 37 5 68931254 68931254 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 68931254 68931254 C T SNP ENSG00000269208 ENST00000596065 human ensembl 70_37 -1 novel silent c.51 p.V17 0.000 NULL NULL - no_errors AC139495.1 Clone_based_ensembl_gene ENSG00000269445 0 genome.wustl.edu 37 19 39017603 39017603 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39017603 39017603 G C SNP ENSG00000269445 ENST00000597015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC067969.1 Clone_based_vega_gene ENTPD4 9583 genome.wustl.edu 37 8 23243543 23243543 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 23243543 23243543 C T SNP ENTPD4 ENST00000356206 human ensembl 70_37 -1 putative silent c.1614 p.L538 0.001 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC EOMES 8320 genome.wustl.edu 37 3 27758889 27758889 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 27758889 27758889 C T SNP EOMES ENST00000449599 human ensembl 70_37 -1 known missense c.1790 p.R597Q 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC EP400 57634 genome.wustl.edu 37 12 132504700 132504700 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 132504700 132504700 C G SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.4492 p.P1498A 0.156 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC EPB41L4B 54566 genome.wustl.edu 37 9 112018705 112018705 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 112018705 112018705 C G SNP EPB41L4B ENST00000374566 human ensembl 70_37 -1 known missense c.808 p.E270Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC EPC1 80314 genome.wustl.edu 37 10 32581511 32581511 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 32581511 32581511 C T SNP EPC1 ENST00000263062 human ensembl 70_37 -1 known missense c.728 p.R243Q 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC EPG5 57724 genome.wustl.edu 37 18 43535289 43535289 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 43535289 43535289 C T SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known missense c.79 p.E27K 0.977 NULL NULL - no_errors EPG5 HGNC EPHA2 1969 genome.wustl.edu 37 1 16458615 16458615 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16458615 16458615 C G SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.2269 p.D757H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC EPHA2 1969 genome.wustl.edu 37 1 16464585 16464585 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16464585 16464585 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.1075 p.D359N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC EPHA3 2042 genome.wustl.edu 37 3 89468357 89468357 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 89468357 89468357 G A SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.1891 p.E631K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC EPHA4 2043 genome.wustl.edu 37 2 222283737 222283737 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 222283737 222283737 C G SNP EPHA4 ENST00000469354 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors EPHA4 HGNC EPHA4 2043 genome.wustl.edu 37 2 222307658 222307658 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 222307658 222307658 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known silent c.1965 p.L655 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC EPHA5 2044 genome.wustl.edu 37 4 66280088 66280088 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 66280088 66280088 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.1601 p.S534L 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC EPHA7 2045 genome.wustl.edu 37 6 94066513 94066513 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 94066513 94066513 C T SNP EPHA7 ENST00000369303 human ensembl 70_37 -1 known missense c.1246 p.E416K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA7 HGNC EPHB3 2049 genome.wustl.edu 37 3 184295250 184295250 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184295250 184295250 G C SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known missense c.1474 p.E492Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC EPM2AIP1 9852 genome.wustl.edu 37 3 37033287 37033287 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 37033287 37033287 C T SNP EPM2AIP1 ENST00000322716 human ensembl 70_37 -1 known missense c.1282 p.E428K 0.107 NULL NULL - no_errors EPM2AIP1 HGNC EPN2 22905 genome.wustl.edu 37 17 19186876 19186876 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19186876 19186876 C G SNP EPN2 ENST00000314728 human ensembl 70_37 +1 known silent c.444 p.L148 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC EPPK1 83481 genome.wustl.edu 37 8 144942649 144942649 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144942649 144942649 C G SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.4773 p.L1591 0.023 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPPK1 83481 genome.wustl.edu 37 8 144942883 144942883 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144942883 144942883 C G SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.4539 p.E1513D 0.011 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPPK1 83481 genome.wustl.edu 37 8 144943044 144943044 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144943044 144943044 C G SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.4378 p.G1460R 0.995 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPPK1 83481 genome.wustl.edu 37 8 144945320 144945320 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144945320 144945320 G C SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.2102 p.S701C 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPRS 2058 genome.wustl.edu 37 1 220219795 220219795 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 220219795 220219795 G A SNP EPRS ENST00000477030 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EPRS HGNC EPX 8288 genome.wustl.edu 37 17 56277152 56277152 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56277152 56277152 G A SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.1534 p.E512K 0.997 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ERC2 26059 genome.wustl.edu 37 3 56173671 56173671 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 56173671 56173671 C G SNP ERC2 ENST00000288221 human ensembl 70_37 -1 known missense c.1339 p.E447Q 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ERCC3 2071 genome.wustl.edu 37 2 128030510 128030510 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 128030510 128030510 C T SNP ERCC3 ENST00000285398 human ensembl 70_37 -1 known silent c.1758 p.Q586 0.906 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_XPGB_DNA_repair pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair - no_errors ERCC3 HGNC ERCC3 2071 genome.wustl.edu 37 2 128051204 128051204 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 128051204 128051204 G A SNP ERCC3 ENST00000285398 human ensembl 70_37 -1 known missense c.119 p.S40L 0.933 NULL pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair - no_errors ERCC3 HGNC ERCC6L2 375748 genome.wustl.edu 37 9 98643199 98643199 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 98643199 98643199 G C SNP ERCC6L2 ENST00000288985 human ensembl 70_37 +1 novel missense c.128 p.G43A 0.988 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ERCC8 1161 genome.wustl.edu 37 5 60186718 60186718 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60186718 60186718 G A SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known nonsense c.1039 p.Q347* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ERCC8 1161 genome.wustl.edu 37 5 60189042 60189042 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60189042 60189042 C T SNP ERCC8 ENST00000462279 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors ERCC8 HGNC ERCC8 1161 genome.wustl.edu 37 5 60240761 60240761 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60240761 60240761 C T SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known silent c.75 p.R25 0.999 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 ERCC8 HGNC ERMN 57471 genome.wustl.edu 37 2 158182121 158182121 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 158182121 158182121 C G SNP ERMN ENST00000397283 human ensembl 70_37 -1 known missense c.73 p.E25Q 0.061 NULL superfamily_Moesin - no_errors ERMN HGNC ERN1 2081 genome.wustl.edu 37 17 62122227 62122227 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62122227 62122227 C G SNP ERN1 ENST00000433197 human ensembl 70_37 -1 known missense c.2714 p.R905T 1.000 pfam_KEN_RNase_activator,smart_PUG-dom pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ERVK13-1 100507321 genome.wustl.edu 37 16 2712361 2712361 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2712361 2712361 G A SNP ERVK13-1 ENST00000568395 human ensembl 70_37 -1 known rna NULL NULL 0.215 - - - no_errors ERVK13-1 HGNC ESPL1 9700 genome.wustl.edu 37 12 53663682 53663682 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53663682 53663682 C T SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.956 p.S319L 0.026 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ESPL1 9700 genome.wustl.edu 37 12 53680360 53680360 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53680360 53680360 C T SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known silent c.3840 p.L1280 0.941 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ESPN 83715 genome.wustl.edu 37 1 6511968 6511968 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 6511968 6511968 C T SNP ESPN ENST00000377828 human ensembl 70_37 +1 known nonsense c.2137 p.Q713* 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ESRP1 54845 genome.wustl.edu 37 8 95674553 95674553 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 95674553 95674553 G C SNP ESRP1 ENST00000433389 human ensembl 70_37 +1 known missense c.544 p.E182Q 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC EVI5 7813 genome.wustl.edu 37 1 93091306 93091306 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 93091306 93091306 G A SNP EVI5 ENST00000492613 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors EVI5 HGNC EVPLL 645027 genome.wustl.edu 37 17 18286482 18286482 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18286482 18286482 G A SNP EVPLL ENST00000399134 human ensembl 70_37 +1 novel missense c.655 p.V219M 0.984 NULL NULL - no_errors EVPLL HGNC EWSR1 2130 genome.wustl.edu 37 22 29695785 29695785 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 29695785 29695785 G C SNP EWSR1 ENST00000414183 human ensembl 70_37 +1 known missense c.1890 p.L630F 0.964 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC EXOC4 60412 genome.wustl.edu 37 7 132959806 132959806 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 132959806 132959806 G A SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known silent c.156 p.E52 1.000 pfam_Sec8_exocyst pfam_Sec8_exocyst - no_errors EXOC4 HGNC EXOC6 54536 genome.wustl.edu 37 10 94733981 94733981 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 94733981 94733981 C G SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known missense c.1993 p.H665D 1.000 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC EXOSC10 5394 genome.wustl.edu 37 1 11140942 11140942 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11140942 11140942 C G SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known missense c.1465 p.E489Q 1.000 superfamily_HRDC-like pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC EXOSC10 5394 genome.wustl.edu 37 1 11141160 11141160 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11141160 11141160 C G SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known silent c.1416 p.R472 0.979 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC EYS 346007 genome.wustl.edu 37 6 65301604 65301604 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 65301604 65301604 C G SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.4156 p.D1386H 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC EZH1 2145 genome.wustl.edu 37 17 40857136 40857136 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40857136 40857136 C G SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.1905 p.K635N 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC F8 2157 genome.wustl.edu 37 X 154159334 154159334 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 154159334 154159334 C G SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.2731 p.D911H 0.078 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC FAHD1 81889 genome.wustl.edu 37 16 1877400 1877400 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1877400 1877400 C T SNP FAHD1 ENST00000382666 human ensembl 70_37 +1 known missense c.170 p.S57L 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD1 HGNC FAIM 55179 genome.wustl.edu 37 3 138329875 138329875 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138329875 138329875 C G SNP FAIM ENST00000338446 human ensembl 70_37 +1 known missense c.76 p.L26V 0.012 NULL pfam_FAIM - no_errors FAIM HGNC FAIM2 23017 genome.wustl.edu 37 12 50264376 50264376 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 50264376 50264376 C T SNP FAIM2 ENST00000320634 human ensembl 70_37 -1 known missense c.862 p.E288K 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors FAIM2 HGNC FAM107A 11170 genome.wustl.edu 37 3 58612841 58612841 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 58612841 58612841 C G SNP FAM107A ENST00000497310 human ensembl 70_37 -1 putative rna NULL NULL 0.014 - - - no_errors FAM107A HGNC FAM124A 220108 genome.wustl.edu 37 13 51826091 51826091 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 51826091 51826091 G C SNP FAM124A ENST00000280057 human ensembl 70_37 +1 known missense c.696 p.R232S 0.134 NULL NULL - no_errors FAM124A HGNC FAM131C 348487 genome.wustl.edu 37 1 16384780 16384780 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16384780 16384780 G A SNP FAM131C ENST00000494078 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM131C HGNC FAM138B 654412 genome.wustl.edu 37 2 114335700 114335700 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 114335700 114335700 C T SNP FAM138B ENST00000432583 human ensembl 70_37 +1 known rna NULL NULL 0.089 - - - no_errors FAM138B HGNC FAM157B 100132403 genome.wustl.edu 37 9 141107619 141107619 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 141107619 141107619 C G SNP FAM157B ENST00000446912 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors FAM157B HGNC FAM163A 148753 genome.wustl.edu 37 1 179782210 179782210 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179782210 179782210 G C SNP FAM163A ENST00000341785 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors FAM163A HGNC FAM169B 283777 genome.wustl.edu 37 15 99023833 99023833 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 99023833 99023833 C T SNP FAM169B ENST00000332908 human ensembl 70_37 -1 known missense c.180 p.M60I 0.939 NULL NULL - no_errors FAM169B HGNC FAM170A 340069 genome.wustl.edu 37 5 118968449 118968449 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 118968449 118968449 C T SNP FAM170A ENST00000515256 human ensembl 70_37 +1 known missense c.77 p.S26L 0.000 NULL NULL - no_errors FAM170A HGNC FAM178A 55719 genome.wustl.edu 37 10 102684212 102684212 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 102684212 102684212 C G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known missense c.1454 p.S485C 1.000 NULL NULL - no_errors FAM178A HGNC FAM178A 55719 genome.wustl.edu 37 10 102685753 102685753 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 102685753 102685753 G A SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known silent c.2019 p.V673 1.000 NULL NULL - no_errors FAM178A HGNC FAM180B 399888 genome.wustl.edu 37 11 47609701 47609701 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 47609701 47609701 C T SNP FAM180B ENST00000356737 human ensembl 70_37 +1 known silent c.390 p.H130 0.001 NULL NULL - no_errors FAM180B HGNC FAM184A 79632 genome.wustl.edu 37 6 119285899 119285899 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 119285899 119285899 C T SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.3071 p.R1024Q 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC FAM189A2 9413 genome.wustl.edu 37 9 72006623 72006623 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 72006623 72006623 C G SNP FAM189A2 ENST00000257515 human ensembl 70_37 +1 known missense c.1256 p.T419R 0.000 NULL pfam_CD20-like - no_errors FAM189A2 HGNC FAM189B 10712 genome.wustl.edu 37 1 155220086 155220086 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155220086 155220086 G A SNP FAM189B ENST00000361361 human ensembl 70_37 -1 known silent c.1491 p.I497 1.000 NULL pfam_CD20-like - no_errors FAM189B HGNC TVP23A 780776 genome.wustl.edu 37 16 10855381 10855381 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 10855381 10855381 G A SNP FAM18A ENST00000572980 human ensembl 70_37 -1 known rna NULL NULL 0.069 - - - no_errors FAM18A HGNC FAM193A 8603 genome.wustl.edu 37 4 2632837 2632837 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2632837 2632837 G A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.106 p.E36K 1.000 NULL NULL - no_errors FAM193A HGNC FAM196B 100131897 genome.wustl.edu 37 5 169310879 169310879 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169310879 169310879 C T SNP FAM196B ENST00000377365 human ensembl 70_37 -1 known silent c.24 p.V8 1.000 NULL NULL - no_errors FAM196B HGNC FAM198A 729085 genome.wustl.edu 37 3 43074109 43074109 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 43074109 43074109 G A SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known silent c.354 p.V118 0.004 NULL NULL - no_errors FAM198A HGNC FAM208A 23272 genome.wustl.edu 37 3 56659007 56659007 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 56659007 56659007 C A SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known missense c.3984 p.L1328F 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC FAM3D 131177 genome.wustl.edu 37 3 58620041 58620041 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 58620041 58620041 C G SNP FAM3D ENST00000358781 human ensembl 70_37 -1 known missense c.640 p.E214Q 1.000 NULL NULL - no_errors FAM3D HGNC FAM49A 81553 genome.wustl.edu 37 2 16734221 16734221 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 16734221 16734221 G C SNP FAM49A ENST00000355549 human ensembl 70_37 -1 known missense c.955 p.R319G 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC FAM49B 51571 genome.wustl.edu 37 8 130864412 130864412 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 130864412 130864412 G A SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known missense c.629 p.S210L 0.996 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC FAM49B 51571 genome.wustl.edu 37 8 130891638 130891638 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 130891638 130891638 C T SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known missense c.70 p.E24K 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC FAM63A 55793 genome.wustl.edu 37 1 150974870 150974870 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 150974870 150974870 G C SNP FAM63A ENST00000361738 human ensembl 70_37 -1 known nonsense c.368 p.S123* 0.003 NULL pfam_DUF544 - no_errors FAM63A HGNC FAM83C 128876 genome.wustl.edu 37 20 33875238 33875238 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 33875238 33875238 G A SNP FAM83C ENST00000374408 human ensembl 70_37 -1 known silent c.1344 p.R448 0.000 NULL pfam_DUF1669 - no_errors FAM83C HGNC FAM83C 128876 genome.wustl.edu 37 20 33875249 33875249 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 33875249 33875249 G A SNP FAM83C ENST00000374408 human ensembl 70_37 -1 known silent c.1333 p.L445 0.996 NULL pfam_DUF1669 - no_errors FAM83C HGNC FAM86B1 85002 genome.wustl.edu 37 8 12040405 12040405 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 12040405 12040405 G C SNP FAM86B1 ENST00000529146 human ensembl 70_37 -1 known rna NULL NULL 0.100 - - - no_errors FAM86B1 HGNC FAM86JP 100125556 genome.wustl.edu 37 3 125635577 125635577 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 125635577 125635577 G A SNP FAM86JP ENST00000485843 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM86JP HGNC FAM90A24P 441332 genome.wustl.edu 37 8 7878260 7878260 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 7878260 7878260 G C SNP FAM90A24P ENST00000521100 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM90A24P HGNC FAM9A 171482 genome.wustl.edu 37 X 8761788 8761788 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 8761788 8761788 G C SNP FAM9A ENST00000381003 human ensembl 70_37 -1 known missense c.841 p.Q281E 0.003 NULL NULL - no_errors FAM9A HGNC FAN1 22909 genome.wustl.edu 37 15 31221463 31221463 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 31221463 31221463 G C SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known missense c.2650 p.E884Q 0.999 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC FANCI 55215 genome.wustl.edu 37 15 89816662 89816662 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 89816662 89816662 C T SNP FANCI ENST00000310775 human ensembl 70_37 +1 known missense c.937 p.L313F 0.995 NULL NULL - no_errors FANCI HGNC FAP 2191 genome.wustl.edu 37 2 163070562 163070562 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 163070562 163070562 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known silent c.888 p.L296 0.951 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC FARP1 10160 genome.wustl.edu 37 13 99037958 99037958 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 99037958 99037958 G C SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.649 p.E217Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC FAS 355 genome.wustl.edu 37 10 90773992 90773992 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 90773992 90773992 G C SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.793 p.D265H 0.491 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC FASTKD1 79675 genome.wustl.edu 37 2 170394627 170394627 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170394627 170394627 C G SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known missense c.1970 p.R657T 0.009 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC FASTKD3 79072 genome.wustl.edu 37 5 7866836 7866836 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 7866836 7866836 G A SNP FASTKD3 ENST00000264669 human ensembl 70_37 -1 known missense c.1361 p.S454L 1.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC FAT2 2196 genome.wustl.edu 37 5 150947811 150947811 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 150947811 150947811 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.682 p.R228W 0.973 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT4 79633 genome.wustl.edu 37 4 126337605 126337605 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 126337605 126337605 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.6846 p.V2282 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBLN1 2192 genome.wustl.edu 37 22 45970481 45970481 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45970481 45970481 C G SNP FBLN1 ENST00000327858 human ensembl 70_37 +1 known missense c.1788 p.I596M 1.000 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC FBLN2 2199 genome.wustl.edu 37 3 13669378 13669378 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 13669378 13669378 C T SNP FBLN2 ENST00000404922 human ensembl 70_37 +1 known silent c.2478 p.F826 0.528 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC FBXL16 146330 genome.wustl.edu 37 16 747106 747106 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 747106 747106 C G SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known missense c.300 p.K100N 1.000 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC FBXL19-AS1 283932 genome.wustl.edu 37 16 30934103 30934103 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30934103 30934103 C G SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors FBXL19-AS1 HGNC FBXL22 283807 genome.wustl.edu 37 15 63893570 63893570 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63893570 63893570 G C SNP FBXL22 ENST00000539570 human ensembl 70_37 +1 known silent c.429 p.P143 0.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXL22 Uniprot_genename FBXO11 80204 genome.wustl.edu 37 2 48050303 48050303 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 48050303 48050303 G C SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known nonsense c.1595 p.S532* 1.000 superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC FBXO21 23014 genome.wustl.edu 37 12 117610280 117610280 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 117610280 117610280 C G SNP FBXO21 ENST00000330622 human ensembl 70_37 -1 known missense c.1009 p.E337Q 0.932 superfamily_F-box_dom_cyclin-like pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC FBXO40 51725 genome.wustl.edu 37 3 121345634 121345634 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121345634 121345634 C G SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.2007 p.F669L 1.000 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC FBXO43 286151 genome.wustl.edu 37 8 101154311 101154311 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 101154311 101154311 G C SNP FBXO43 ENST00000428847 human ensembl 70_37 -1 known silent c.171 p.V57 0.002 NULL pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC - no_errors FBXO43 HGNC FBXO47 494188 genome.wustl.edu 37 17 37099097 37099097 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 37099097 37099097 G A SNP FBXO47 ENST00000378079 human ensembl 70_37 -1 known silent c.1017 p.F339 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO47 HGNC FCGBP 8857 genome.wustl.edu 37 19 40364196 40364196 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40364196 40364196 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.14446 p.R4816C 0.807 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCGBP 8857 genome.wustl.edu 37 19 40434171 40434171 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40434171 40434171 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.98 p.R33K 0.028 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCHSD1 89848 genome.wustl.edu 37 5 141020662 141020662 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 141020662 141020662 G C SNP FCHSD1 ENST00000520465 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FCHSD1 HGNC FCRL2 79368 genome.wustl.edu 37 1 157739743 157739743 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 157739743 157739743 C T SNP FCRL2 ENST00000361516 human ensembl 70_37 -1 known missense c.508 p.E170K 0.025 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL2 HGNC FCRL5 83416 genome.wustl.edu 37 1 157490282 157490282 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 157490282 157490282 G A SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known silent c.2571 p.L857 0.080 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC FCRL5 83416 genome.wustl.edu 37 1 157512838 157512838 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 157512838 157512838 C A SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known nonsense c.934 p.E312* 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC FCRL6 343413 genome.wustl.edu 37 1 159779272 159779272 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159779272 159779272 G A SNP FCRL6 ENST00000368106 human ensembl 70_37 +1 known missense c.685 p.E229K 0.175 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC FCRL6 343413 genome.wustl.edu 37 1 159779317 159779317 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159779317 159779317 G A SNP FCRL6 ENST00000368106 human ensembl 70_37 +1 known missense c.730 p.D244N 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC FEM1A 55527 genome.wustl.edu 37 19 4793205 4793205 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4793205 4793205 C G SNP FEM1A ENST00000269856 human ensembl 70_37 +1 known missense c.1339 p.Q447E 1.000 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 FEM1A HGNC FER1L4 80307 genome.wustl.edu 37 20 34164119 34164119 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34164119 34164119 G C SNP FER1L4 ENST00000440443 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FER1L4 HGNC FETUB 26998 genome.wustl.edu 37 3 186358435 186358435 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 186358435 186358435 G C SNP FETUB ENST00000265029 human ensembl 70_37 +1 known silent c.186 p.L62 0.997 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC FGL1 2267 genome.wustl.edu 37 8 17726235 17726235 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 17726235 17726235 C G SNP FGL1 ENST00000221204 human ensembl 70_37 -1 known missense c.601 p.E201Q 0.113 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGL1 HGNC FHAD1 114827 genome.wustl.edu 37 1 15708573 15708573 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 15708573 15708573 G C SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.4006 p.E1336Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC FIGN 55137 genome.wustl.edu 37 2 164466975 164466975 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 164466975 164466975 G A SNP FIGN ENST00000333129 human ensembl 70_37 -1 known missense c.1367 p.S456F 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC FIP1L1 81608 genome.wustl.edu 37 4 54245406 54245406 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 54245406 54245406 G C SNP FIP1L1 ENST00000337488 human ensembl 70_37 +1 known missense c.145 p.E49Q 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC FIS1 51024 genome.wustl.edu 37 7 100883427 100883427 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100883427 100883427 C G SNP FIS1 ENST00000223136 human ensembl 70_37 -1 known missense c.357 p.K119N 1.000 pirsf_Tetratricopeptide_rpt_11_Fis1 pirsf_Tetratricopeptide_rpt_11_Fis1 - no_errors FIS1 HGNC FKBP15 23307 genome.wustl.edu 37 9 115932861 115932861 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 115932861 115932861 C G SNP FKBP15 ENST00000238256 human ensembl 70_37 -1 known missense c.2707 p.E903Q 1.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC FKBPL 63943 genome.wustl.edu 37 6 32097077 32097077 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 32097077 32097077 C G SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.481 p.E161Q 0.994 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC FLG 2312 genome.wustl.edu 37 1 152279231 152279231 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152279231 152279231 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8131 p.G2711R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG 2312 genome.wustl.edu 37 1 152279801 152279801 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152279801 152279801 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.7561 p.E2521K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG2 388698 genome.wustl.edu 37 1 152327330 152327330 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152327330 152327330 C T SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.2932 p.E978K 0.392 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLI1 2313 genome.wustl.edu 37 11 128675282 128675282 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 128675282 128675282 G A SNP FLI1 ENST00000429175 human ensembl 70_37 +1 known missense c.677 p.R226K 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC FLJ22184 80164 genome.wustl.edu 37 19 7938348 7938348 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 7938348 7938348 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known missense c.227 p.R76Q 0.000 NULL NULL - no_errors FLJ22184 Uniprot_genename FLJ35390 0 genome.wustl.edu 37 7 44079656 44079656 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44079656 44079656 G C SNP FLJ35390 ENST00000416824 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors AC017116.8 Clone_based_vega_gene FLNC 2318 genome.wustl.edu 37 7 128486083 128486083 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 128486083 128486083 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.3830 p.A1277V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FLT1 2321 genome.wustl.edu 37 13 28886206 28886206 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 28886206 28886206 C G SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.3416 p.R1139T 0.963 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC FLT1 2321 genome.wustl.edu 37 13 28901605 28901605 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 28901605 28901605 G C SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known silent c.2790 p.L930 0.997 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC FLT4 2324 genome.wustl.edu 37 5 180043928 180043928 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 180043928 180043928 C G SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.3068 p.R1023T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC FLT4 2324 genome.wustl.edu 37 5 180043956 180043956 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 180043956 180043956 G A SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.3040 p.L1014F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC FMO5 2330 genome.wustl.edu 37 1 146672800 146672800 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 146672800 146672800 G A SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known nonsense c.1117 p.Q373* 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC FMO5 2330 genome.wustl.edu 37 1 146672888 146672888 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 146672888 146672888 G C SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known silent c.1029 p.V343 0.997 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC FN1 2335 genome.wustl.edu 37 2 216298069 216298069 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 216298069 216298069 C G SNP FN1 ENST00000354785 human ensembl 70_37 -1 known silent c.393 p.G131 0.171 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC FNDC3B 64778 genome.wustl.edu 37 3 172052756 172052757 + Frame_Shift_Ins INS - - A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 172052756 172052757 - A INS FNDC3B ENST00000336824 human ensembl 70_37 +1 known frame_shift_ins c.1664_1665 p.S557fs 1.000:0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC FNDC4 64838 genome.wustl.edu 37 2 27717491 27717491 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27717491 27717491 G A SNP FNDC4 ENST00000264703 human ensembl 70_37 -1 known missense c.56 p.S19L 0.991 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC FNIP2 57600 genome.wustl.edu 37 4 159789974 159789974 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 159789974 159789974 C G SNP FNIP2 ENST00000379346 human ensembl 70_37 +1 known missense c.2255 p.S752C 1.000 NULL NULL - no_errors FNIP2 HGNC FOXA2 3170 genome.wustl.edu 37 20 22563544 22563544 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 22563544 22563544 C G SNP FOXA2 ENST00000319993 human ensembl 70_37 -1 known missense c.336 p.L112F 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC FOXD4L1 200350 genome.wustl.edu 37 2 114257652 114257652 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 114257652 114257652 G A SNP FOXD4L1 ENST00000306507 human ensembl 70_37 +1 known silent c.819 p.S273 0.028 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC FOXL2 668 genome.wustl.edu 37 3 138665213 138665213 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138665213 138665213 C T SNP FOXL2 ENST00000330315 human ensembl 70_37 -1 known missense c.352 p.E118K 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC FOXM1 2305 genome.wustl.edu 37 12 2968012 2968012 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 2968012 2968012 G C SNP FOXM1 ENST00000342628 human ensembl 70_37 -1 known nonsense c.2198 p.S733* 0.007 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC FOXRED2 80020 genome.wustl.edu 37 22 36889694 36889694 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 36889694 36889694 C T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.1781 p.R594Q 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC FRAS1 80144 genome.wustl.edu 37 4 79385678 79385678 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79385678 79385678 G C SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.6970 p.E2324Q 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FRAS1 80144 genome.wustl.edu 37 4 79461938 79461938 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79461938 79461938 C G SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known nonsense c.11699 p.S3900* 0.990 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FRAS1 80144 genome.wustl.edu 37 4 79461991 79461991 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79461991 79461991 C G SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.11752 p.L3918V 0.977 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FREM2 341640 genome.wustl.edu 37 13 39262212 39262212 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 39262212 39262212 G A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.731 p.R244K 0.001 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC FRMD4B 23150 genome.wustl.edu 37 3 69230376 69230376 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 69230376 69230376 G A SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.2525 p.S842L 0.074 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC FRMD4B 23150 genome.wustl.edu 37 3 69230520 69230520 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 69230520 69230520 G C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known nonsense c.2381 p.S794* 0.009 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC FRMD4B 23150 genome.wustl.edu 37 3 69360490 69360490 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 69360490 69360490 C G SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.247 p.E83Q 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC FRS3 10817 genome.wustl.edu 37 6 41738419 41738419 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41738419 41738419 G A SNP FRS3 ENST00000259748 human ensembl 70_37 -1 known silent c.1417 p.L473 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC FRYL 285527 genome.wustl.edu 37 4 48588685 48588685 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48588685 48588685 C G SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.1701 p.L567F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC FSCN1 6624 genome.wustl.edu 37 7 5632933 5632933 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5632933 5632933 C G SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known missense c.366 p.F122L 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC FSCN1 6624 genome.wustl.edu 37 7 5632988 5632988 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5632988 5632988 C G SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known missense c.421 p.Q141E 1.000 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC FSCN1 6624 genome.wustl.edu 37 7 5632993 5632993 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5632993 5632993 C G SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known silent c.426 p.V142 0.997 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC FSD1L 83856 genome.wustl.edu 37 9 108226568 108226568 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 108226568 108226568 C T SNP FSD1L ENST00000374716 human ensembl 70_37 +1 known nonsense c.67 p.Q23* 1.000 superfamily_FH2_actin-bd,smart_Bbox_C superfamily_FH2_actin-bd,smart_Bbox_C - no_errors FSD1L HGNC FSD2 123722 genome.wustl.edu 37 15 83455623 83455623 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 83455623 83455623 C T SNP FSD2 ENST00000334574 human ensembl 70_37 -1 known missense c.520 p.E174K 0.671 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC FSIP2 401024 genome.wustl.edu 37 2 186653530 186653530 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 186653530 186653530 C T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.1934 p.S645L 0.998 NULL NULL - no_errors FSIP2 HGNC FSTL3 10272 genome.wustl.edu 37 19 681413 681413 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 681413 681413 C T SNP FSTL3 ENST00000166139 human ensembl 70_37 +1 known nonsense c.586 p.R196* 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors FSTL3 HGNC FSTL5 56884 genome.wustl.edu 37 4 162431553 162431553 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 162431553 162431553 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.1336 p.E446K 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC FUK 197258 genome.wustl.edu 37 16 70513187 70513187 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 70513187 70513187 C T SNP FUK ENST00000378912 human ensembl 70_37 +1 known silent c.3052 p.L1018 1.000 pfam_GHMP_kinase_C_dom,prints_Galkinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC FURIN 5045 genome.wustl.edu 37 15 91419569 91419569 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91419569 91419569 C T SNP FURIN ENST00000268171 human ensembl 70_37 +1 known nonsense c.262 p.Q88* 0.999 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC FXR1 8087 genome.wustl.edu 37 3 180666275 180666275 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 180666275 180666275 G C SNP FXR1 ENST00000357559 human ensembl 70_37 +1 known missense c.411 p.L137F 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC FXYD4 53828 genome.wustl.edu 37 10 43870966 43870966 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 43870966 43870966 G C SNP FXYD4 ENST00000374451 human ensembl 70_37 +1 known silent c.117 p.L39 0.991 pfam_Ion-transport_regulator_FXYD pfam_Ion-transport_regulator_FXYD - no_errors FXYD4 HGNC FXYD6 53826 genome.wustl.edu 37 11 117710540 117710540 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 117710540 117710540 C G SNP FXYD6 ENST00000260282 human ensembl 70_37 -1 known missense c.265 p.E89Q 1.000 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD6 HGNC FYCO1 79443 genome.wustl.edu 37 3 46008803 46008803 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 46008803 46008803 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.2023 p.D675N 0.004 superfamily_Prefoldin pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC FZD8 8325 genome.wustl.edu 37 10 35928930 35928930 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 35928930 35928930 C T SNP FZD8 ENST00000374694 human ensembl 70_37 -1 known silent c.1428 p.Q476 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC FZR1 51343 genome.wustl.edu 37 19 3532042 3532042 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3532042 3532042 C G SNP FZR1 ENST00000395095 human ensembl 70_37 +1 known silent c.957 p.L319 0.966 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC G0S2 50486 genome.wustl.edu 37 1 209849101 209849101 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 209849101 209849101 G A SNP G0S2 ENST00000367029 human ensembl 70_37 +1 known silent c.72 p.V24 1.000 NULL NULL - no_errors G0S2 HGNC GAB4 128954 genome.wustl.edu 37 22 17469015 17469015 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17469015 17469015 G C SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known missense c.521 p.S174C 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC GABRR1 2569 genome.wustl.edu 37 6 89907951 89907951 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 89907951 89907951 C T SNP GABRR1 ENST00000454853 human ensembl 70_37 -1 known missense c.360 p.M120I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC GAK 2580 genome.wustl.edu 37 4 877234 877234 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 877234 877234 C T SNP GAK ENST00000314167 human ensembl 70_37 -1 known missense c.1273 p.E425K 0.995 pfscan_Phosphatase_tensin-typ pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC GAL3ST1 9514 genome.wustl.edu 37 22 30953252 30953252 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 30953252 30953252 G C SNP GAL3ST1 ENST00000338911 human ensembl 70_37 -1 known missense c.128 p.S43C 0.992 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC GALK1 2584 genome.wustl.edu 37 17 73759142 73759142 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73759142 73759142 G A SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known silent c.654 p.F218 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC GALK1 2584 genome.wustl.edu 37 17 73760097 73760097 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73760097 73760097 G A SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known missense c.326 p.S109F 0.098 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC GALT 2592 genome.wustl.edu 37 9 34646747 34646747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 34646747 34646747 G C SNP GALT ENST00000378842 human ensembl 70_37 +1 known missense c.46 p.E16Q 0.999 pirsf_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC GAN 8139 genome.wustl.edu 37 16 81348827 81348827 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 81348827 81348827 G C SNP GAN ENST00000248272 human ensembl 70_37 +1 known missense c.109 p.D37H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC GANC 2595 genome.wustl.edu 37 15 42632033 42632033 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 42632033 42632033 C T SNP GANC ENST00000318010 human ensembl 70_37 +1 known silent c.2010 p.I670 0.993 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANC HGNC GAPVD1 26130 genome.wustl.edu 37 9 128113141 128113141 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 128113141 128113141 G A SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known missense c.3640 p.E1214K 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC GATA2 2624 genome.wustl.edu 37 3 128200129 128200129 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128200129 128200129 C T SNP GATA2 ENST00000341105 human ensembl 70_37 -1 known silent c.1176 p.G392 0.901 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC GCC2 9648 genome.wustl.edu 37 2 109087433 109087433 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109087433 109087433 C T SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known nonsense c.1648 p.Q550* 0.030 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC GCC2 9648 genome.wustl.edu 37 2 109088372 109088372 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109088372 109088372 G C SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.2587 p.E863Q 0.986 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC GCNT2 2651 genome.wustl.edu 37 6 10529685 10529685 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 10529685 10529685 G A SNP GCNT2 ENST00000379597 human ensembl 70_37 +1 known missense c.541 p.E181K 0.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC GCNT3 9245 genome.wustl.edu 37 15 59910896 59910896 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 59910896 59910896 G C SNP GCNT3 ENST00000396065 human ensembl 70_37 +1 known silent c.459 p.V153 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC GCNT7 140687 genome.wustl.edu 37 20 55072244 55072244 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 55072244 55072244 G T SNP GCNT7 ENST00000243913 human ensembl 70_37 -1 putative missense c.55 p.H19N 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT7 HGNC GDPD5 81544 genome.wustl.edu 37 11 75154077 75154077 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 75154077 75154077 G C SNP GDPD5 ENST00000527322 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GDPD5 HGNC GGH 8836 genome.wustl.edu 37 8 63927960 63927960 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 63927960 63927960 C T SNP GGH ENST00000260118 human ensembl 70_37 -1 known silent c.888 p.L296 0.999 NULL pfam_Peptidase_C26,pfam_GATASE_1 - no_errors GGH HGNC GGNBP1 449520 genome.wustl.edu 37 6 33554563 33554563 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33554563 33554563 G T SNP GGNBP1 ENST00000374458 human ensembl 70_37 +1 known nonsense c.214 p.E72* 0.987 NULL NULL - no_errors GGNBP1 HGNC GGTLC2 91227 genome.wustl.edu 37 22 22988825 22988825 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 22988825 22988825 G A SNP GGTLC2 ENST00000448514 human ensembl 70_37 +1 known missense c.10 p.E4K 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC GGTLC2 91227 genome.wustl.edu 37 22 22988948 22988948 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 22988948 22988948 G C SNP GGTLC2 ENST00000448514 human ensembl 70_37 +1 known missense c.133 p.E45Q 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC GIMAP6 474344 genome.wustl.edu 37 7 150325418 150325418 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150325418 150325418 C G SNP GIMAP6 ENST00000328902 human ensembl 70_37 -1 known missense c.268 p.E90Q 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP6 HGNC GJB1 2705 genome.wustl.edu 37 X 70443861 70443861 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 70443861 70443861 G C SNP GJB1 ENST00000361726 human ensembl 70_37 +1 known missense c.304 p.E102Q 0.995 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32 - no_errors GJB1 HGNC GK5 256356 genome.wustl.edu 37 3 141905084 141905084 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 141905084 141905084 G A SNP GK5 ENST00000392993 human ensembl 70_37 -1 known missense c.707 p.S236F 0.978 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC GLB1L 79411 genome.wustl.edu 37 2 220103037 220103037 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220103037 220103037 C G SNP GLB1L ENST00000295759 human ensembl 70_37 -1 known missense c.1276 p.E426Q 0.170 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC GLDC 2731 genome.wustl.edu 37 9 6605200 6605200 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 6605200 6605200 G C SNP GLDC ENST00000321612 human ensembl 70_37 -1 known missense c.792 p.F264L 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC GLDN 342035 genome.wustl.edu 37 15 51689762 51689762 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 51689762 51689762 C T SNP GLDN ENST00000335449 human ensembl 70_37 +1 known missense c.784 p.R262W 0.834 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC GLI2 2736 genome.wustl.edu 37 2 121746932 121746932 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 121746932 121746932 G C SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.3442 p.E1148Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC GLIS1 148979 genome.wustl.edu 37 1 54059922 54059922 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 54059922 54059922 C T SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known silent c.654 p.K218 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC GLIS3 169792 genome.wustl.edu 37 9 3898693 3898693 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 3898693 3898693 G A SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.2126 p.S709L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC GLRA3 8001 genome.wustl.edu 37 4 175644037 175644037 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 175644037 175644037 C T SNP GLRA3 ENST00000436738 human ensembl 70_37 -1 putative rna NULL NULL 0.998 - - - no_errors GLRA3 HGNC GLUL 2752 genome.wustl.edu 37 1 182355306 182355306 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 182355306 182355306 G C SNP GLUL ENST00000491322 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC GLYATL1P2 100129933 genome.wustl.edu 37 11 58660238 58660238 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 58660238 58660238 G A SNP GLYATL1P2 ENST00000529451 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors GLYATL1P2 HGNC GLYATL1P2 100129933 genome.wustl.edu 37 11 58660281 58660281 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 58660281 58660281 G A SNP GLYATL1P2 ENST00000529451 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors GLYATL1P2 HGNC GLYR1 84656 genome.wustl.edu 37 16 4882065 4882065 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4882065 4882065 G C SNP GLYR1 ENST00000321919 human ensembl 70_37 -1 known missense c.452 p.S151C 1.000 NULL pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC GMEB1 10691 genome.wustl.edu 37 1 29023524 29023524 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 29023524 29023524 C G SNP GMEB1 ENST00000294409 human ensembl 70_37 +1 known missense c.556 p.L186V 1.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC GNAS 2778 genome.wustl.edu 37 20 57428722 57428722 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 57428722 57428722 C T SNP GNAS ENST00000306120 human ensembl 70_37 +1 putative missense c.212 p.S71L 0.000 NULL NULL - no_errors GNAS HGNC GNB5 10681 genome.wustl.edu 37 15 52472036 52472036 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 52472036 52472036 G T SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known nonsense c.167 p.S56* 1.000 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC GNN 253724 genome.wustl.edu 37 12 104238044 104238044 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 104238044 104238044 G T SNP GNN ENST00000548527 human ensembl 70_37 -1 known rna NULL NULL 0.083 - - - no_errors RP11-642P15.1 Clone_based_vega_gene GNS 2799 genome.wustl.edu 37 12 65130862 65130862 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 65130862 65130862 C G SNP GNS ENST00000258145 human ensembl 70_37 -1 known missense c.1020 p.K340N 0.960 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC GNS 2799 genome.wustl.edu 37 12 65141672 65141672 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 65141672 65141672 G A SNP GNS ENST00000258145 human ensembl 70_37 -1 known silent c.279 p.P93 0.374 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC GOLGA1 2800 genome.wustl.edu 37 9 127640716 127640716 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 127640716 127640716 C T SNP GOLGA1 ENST00000475407 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors GOLGA1 HGNC GOLGA3 2802 genome.wustl.edu 37 12 133384852 133384852 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 133384852 133384852 G C SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.803 p.S268C 0.011 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37284995 37284995 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 37284995 37284995 C T SNP GOLGA4 ENST00000419177 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors GOLGA4 HGNC GOLGA8B 440270 genome.wustl.edu 37 15 34825220 34825220 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34825220 34825220 C G SNP GOLGA8B ENST00000438958 human ensembl 70_37 -1 known missense c.202 p.E68Q 1.000 NULL NULL - no_errors GOLGA8B HGNC GOLGA8T 653075 genome.wustl.edu 37 15 30435872 30435872 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 30435872 30435872 C T SNP GOLGA8T ENST00000569052 human ensembl 70_37 +1 novel missense c.1264 p.L422F 0.648 NULL NULL - no_errors GOLGA8T HGNC GOLGB1 2804 genome.wustl.edu 37 3 121415989 121415989 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121415989 121415989 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.3366 p.I1122M 0.999 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121435699 121435699 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121435699 121435699 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.1158 p.K386N 0.735 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GON4L 54856 genome.wustl.edu 37 1 155823271 155823271 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155823271 155823271 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.301 p.Q101* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155823273 155823273 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155823273 155823273 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.299 p.S100F 0.972 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GORASP2 26003 genome.wustl.edu 37 2 171786164 171786164 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 171786164 171786164 C G SNP GORASP2 ENST00000497928 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GORASP2 HGNC GPATCH3 63906 genome.wustl.edu 37 1 27223845 27223845 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27223845 27223845 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.823 p.E275Q 0.100 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC GPBP1 65056 genome.wustl.edu 37 5 56542956 56542956 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 56542956 56542956 C T SNP GPBP1 ENST00000424459 human ensembl 70_37 +1 known missense c.778 p.H260Y 1.000 NULL NULL - no_errors GPBP1 HGNC GPR113 165082 genome.wustl.edu 37 2 26534593 26534593 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 26534593 26534593 G A SNP GPR113 ENST00000333478 human ensembl 70_37 -1 known missense c.1406 p.S469L 0.001 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC GPR113 165082 genome.wustl.edu 37 2 26534708 26534708 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 26534708 26534708 G A SNP GPR113 ENST00000333478 human ensembl 70_37 -1 known missense c.1291 p.R431W 0.036 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC GPR114 221188 genome.wustl.edu 37 16 57609400 57609400 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57609400 57609400 G A SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known missense c.1537 p.E513K 0.029 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC GPR125 166647 genome.wustl.edu 37 4 22403111 22403111 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 22403111 22403111 G A SNP GPR125 ENST00000334304 human ensembl 70_37 -1 known silent c.2424 p.T808 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC GPR143 4935 genome.wustl.edu 37 X 9693818 9693818 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 9693818 9693818 C G SNP GPR143 ENST00000380929 human ensembl 70_37 -1 known missense c.1243 p.D415H 0.000 pfam_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC GPR149 344758 genome.wustl.edu 37 3 154147176 154147176 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 154147176 154147176 C T SNP GPR149 ENST00000389740 human ensembl 70_37 -1 known missense c.229 p.D77N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC GPR156 165829 genome.wustl.edu 37 3 119962888 119962888 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 119962888 119962888 C T SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known missense c.58 p.D20N 0.910 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC GPR63 81491 genome.wustl.edu 37 6 97246873 97246873 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 97246873 97246873 C G SNP GPR63 ENST00000229955 human ensembl 70_37 -1 known missense c.735 p.L245F 1.000 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_GPCR_Rhodpsn - no_errors GPR63 HGNC GPR65 8477 genome.wustl.edu 37 14 88477740 88477740 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 88477740 88477740 C G SNP GPR65 ENST00000267549 human ensembl 70_37 +1 known silent c.549 p.L183 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR65 HGNC GPR98 84059 genome.wustl.edu 37 5 90008191 90008191 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 90008191 90008191 C G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.9130 p.Q3044E 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPS2 2874 genome.wustl.edu 37 17 7216714 7216714 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7216714 7216714 G C SNP GPS2 ENST00000380728 human ensembl 70_37 -1 known missense c.709 p.Q237E 1.000 NULL NULL - no_errors GPS2 HGNC GPX7 2882 genome.wustl.edu 37 1 53072635 53072635 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53072635 53072635 C T SNP GPX7 ENST00000459779 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GPX7 HGNC GREB1L 80000 genome.wustl.edu 37 18 19021373 19021373 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 19021373 19021373 C G SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.1082 p.S361C 1.000 NULL NULL - no_errors GREB1L HGNC GRIP1 23426 genome.wustl.edu 37 12 66839208 66839208 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 66839208 66839208 G A SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.1435 p.P479S 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GRIPAP1 56850 genome.wustl.edu 37 X 48844596 48844596 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48844596 48844596 C T SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known silent c.885 p.L295 0.887 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC GRK4 2868 genome.wustl.edu 37 4 2965765 2965765 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2965765 2965765 C G SNP GRK4 ENST00000442472 human ensembl 70_37 +1 known missense c.56 p.S19W 0.000 NULL NULL - no_errors GRK4 HGNC GRK7 131890 genome.wustl.edu 37 3 141535812 141535812 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 141535812 141535812 G A SNP GRK7 ENST00000264952 human ensembl 70_37 +1 known missense c.1582 p.E528K 1.000 smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK7 HGNC GRM5 2915 genome.wustl.edu 37 11 88300278 88300278 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 88300278 88300278 C G SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.2573 p.R858T 1.000 prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC GRPR 2925 genome.wustl.edu 37 X 16168521 16168521 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 16168521 16168521 G C SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.507 p.M169I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC GSDMB 55876 genome.wustl.edu 37 17 38061111 38061111 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38061111 38061111 G C SNP GSDMB ENST00000360317 human ensembl 70_37 -1 known missense c.1205 p.S402C 0.001 NULL pfam_Gasdermin - no_errors GSDMB HGNC GSDMB 55876 genome.wustl.edu 37 17 38061148 38061148 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38061148 38061148 C T SNP GSDMB ENST00000360317 human ensembl 70_37 -1 known missense c.1168 p.E390K 0.005 NULL pfam_Gasdermin - no_errors GSDMB HGNC GSN 2934 genome.wustl.edu 37 9 124086857 124086857 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 124086857 124086857 G C SNP GSN ENST00000373818 human ensembl 70_37 +1 known missense c.1504 p.E502Q 1.000 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC GSPT1 2935 genome.wustl.edu 37 16 11984953 11984953 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11984953 11984953 C G SNP GSPT1 ENST00000434724 human ensembl 70_37 -1 known missense c.742 p.E248Q 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC GSPT2 23708 genome.wustl.edu 37 X 51488154 51488154 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 51488154 51488154 G A SNP GSPT2 ENST00000340438 human ensembl 70_37 +1 known missense c.1432 p.D478N 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC GSTA3 2940 genome.wustl.edu 37 6 52764836 52764836 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 52764836 52764836 C G SNP GSTA3 ENST00000211122 human ensembl 70_37 -1 known missense c.310 p.E104Q 0.974 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC GTDC1 79712 genome.wustl.edu 37 2 144966248 144966248 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 144966248 144966248 G A SNP GTDC1 ENST00000344850 human ensembl 70_37 -1 known missense c.101 p.P34L 1.000 pfam_GlycosylTrfase_1_N pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC GTF2H1 2965 genome.wustl.edu 37 11 18359719 18359719 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18359719 18359719 C T SNP GTF2H1 ENST00000265963 human ensembl 70_37 +1 known silent c.411 p.I137 1.000 pfam_BSD,smart_BSD,pfscan_BSD pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD - no_errors GTF2H1 HGNC GTF2I 2969 genome.wustl.edu 37 7 74169840 74169840 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 74169840 74169840 G C SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known splice_site c.2826-1 e30-1 1.000 - - - no_errors GTF2I HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72683349 72683349 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 72683349 72683349 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.323 - - - no_errors GTF2IRD2P1 HGNC GUCY1A2 2977 genome.wustl.edu 37 11 106681104 106681104 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 106681104 106681104 C T SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.1307 p.R436Q 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC GUCY1A3 2982 genome.wustl.edu 37 4 156632252 156632252 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 156632252 156632252 G A SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known missense c.935 p.R312K 1.000 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC GUSB 2990 genome.wustl.edu 37 7 65439917 65439917 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65439917 65439917 C T SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.1054 p.E352K 1.000 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2 pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC GVINP1 387751 genome.wustl.edu 37 11 6740012 6740012 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6740012 6740012 C T SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC GYG2 8908 genome.wustl.edu 37 X 2748123 2748123 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 2748123 2748123 C T SNP GYG2 ENST00000381161 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors GYG2 HGNC GYPB 2994 genome.wustl.edu 37 4 144940464 144940464 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 144940464 144940464 G C SNP GYPB ENST00000507009 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GYPB HGNC HABP2 3026 genome.wustl.edu 37 10 115341870 115341870 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 115341870 115341870 C T SNP HABP2 ENST00000351270 human ensembl 70_37 +1 known silent c.1074 p.L358 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HABP2 HGNC HAND1 9421 genome.wustl.edu 37 5 153857266 153857266 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 153857266 153857266 C T SNP HAND1 ENST00000231121 human ensembl 70_37 -1 known silent c.303 p.K101 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors HAND1 HGNC HAP1 9001 genome.wustl.edu 37 17 39888584 39888584 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39888584 39888584 C T SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known silent c.612 p.L204 0.962 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC HAT1 8520 genome.wustl.edu 37 2 172848125 172848125 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172848125 172848125 G A SNP HAT1 ENST00000264108 human ensembl 70_37 +1 known missense c.1119 p.M373I 1.000 pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC HBS1L 10767 genome.wustl.edu 37 6 135358409 135358409 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 135358409 135358409 C T SNP HBS1L ENST00000367822 human ensembl 70_37 -1 known missense c.1186 p.D396N 1.000 NULL pfam_DUF1916 - no_errors HBS1L HGNC HCAR2 338442 genome.wustl.edu 37 12 123187019 123187019 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 123187019 123187019 G C SNP HCAR2 ENST00000328880 human ensembl 70_37 -1 known missense c.812 p.S271W 0.039 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR2 HGNC HCFC1 3054 genome.wustl.edu 37 X 153225702 153225702 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153225702 153225702 G A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known silent c.1068 p.L356 0.986 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC HCFC1 3054 genome.wustl.edu 37 X 153225740 153225740 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153225740 153225740 G A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.1030 p.R344C 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC HCN2 610 genome.wustl.edu 37 19 613851 613851 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 613851 613851 G C SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known splice_site c.1826-1 e7-1 1.000 - - - no_errors HCN2 HGNC HDAC4 9759 genome.wustl.edu 37 2 240048391 240048391 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 240048391 240048391 C T SNP HDAC4 ENST00000541256 human ensembl 70_37 -1 known splice_site c.1202-1 e10-1 1.000 - - - no_errors HDAC4 HGNC HDC 3067 genome.wustl.edu 37 15 50550607 50550607 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 50550607 50550607 G A SNP HDC ENST00000267845 human ensembl 70_37 -1 known silent c.312 p.F104 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC HDLBP 3069 genome.wustl.edu 37 2 242168950 242168950 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242168950 242168950 G A SNP HDLBP ENST00000484412 human ensembl 70_37 -1 putative rna NULL NULL 0.133 - - - no_errors HDLBP HGNC HDLBP 3069 genome.wustl.edu 37 2 242168952 242168952 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242168952 242168952 G A SNP HDLBP ENST00000484412 human ensembl 70_37 -1 putative rna NULL NULL 0.005 - - - no_errors HDLBP HGNC HDLBP 3069 genome.wustl.edu 37 2 242168993 242168993 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242168993 242168993 G C SNP HDLBP ENST00000484412 human ensembl 70_37 -1 putative rna NULL NULL 0.064 - - - no_errors HDLBP HGNC HEATR1 55127 genome.wustl.edu 37 1 236750791 236750791 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 236750791 236750791 C G SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known splice_site c.1627-1 e13-1 1.000 - - - no_errors HEATR1 HGNC HEATR4 399671 genome.wustl.edu 37 14 73987662 73987662 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 73987662 73987662 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known silent c.963 p.T321 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC HEATR6 63897 genome.wustl.edu 37 17 58121197 58121197 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 58121197 58121197 C T SNP HEATR6 ENST00000184956 human ensembl 70_37 -1 known missense c.3273 p.M1091I 0.564 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC MROH2B 133558 genome.wustl.edu 37 5 41038910 41038910 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 41038910 41038910 C G SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.2142 p.K714N 0.017 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC MROH2B 133558 genome.wustl.edu 37 5 41058167 41058167 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 41058167 41058167 G C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.754 p.Q252E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC HECTD1 25831 genome.wustl.edu 37 14 31611083 31611083 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 31611083 31611083 C T SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.2854 p.E952K 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 HECTD1 25831 genome.wustl.edu 37 14 31641296 31641296 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 31641296 31641296 G C SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.1189 p.Q397E 1.000 superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 HECTD3 79654 genome.wustl.edu 37 1 45468859 45468859 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45468859 45468859 G C SNP HECTD3 ENST00000486132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HECTD3 HGNC HECTD3 79654 genome.wustl.edu 37 1 45474374 45474374 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45474374 45474374 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known splice_site c.1073-1 e8-1 1.000 - - - no_errors HECTD3 HGNC HECTD4 283450 genome.wustl.edu 37 12 112752316 112752316 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112752316 112752316 G C SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.298 p.L100V 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HECW1 23072 genome.wustl.edu 37 7 43484309 43484309 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 43484309 43484309 C T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.1538 p.S513F 0.007 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HERC1 8925 genome.wustl.edu 37 15 63932560 63932560 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63932560 63932560 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known nonsense c.11692 p.Q3898* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HERC1 8925 genome.wustl.edu 37 15 63946435 63946435 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63946435 63946435 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known silent c.10173 p.L3391 0.953 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HERC1 8925 genome.wustl.edu 37 15 63970083 63970083 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63970083 63970083 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.7031 p.S2344F 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HERC1 8925 genome.wustl.edu 37 15 63970165 63970165 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63970165 63970165 G C SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.6949 p.L2317V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HES4 57801 genome.wustl.edu 37 1 934943 934943 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 934943 934943 C T SNP HES4 ENST00000428771 human ensembl 70_37 -1 known silent c.333 p.V111 0.994 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES4 HGNC HEXDC 284004 genome.wustl.edu 37 17 80399095 80399095 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 80399095 80399095 C G SNP HEXDC ENST00000337014 human ensembl 70_37 +1 known nonsense c.1205 p.S402* 0.999 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC HEXIM2 124790 genome.wustl.edu 37 17 43246675 43246675 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246675 43246675 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.360 p.Q120H 1.000 NULL NULL - no_errors HEXIM2 HGNC HEXIM2 124790 genome.wustl.edu 37 17 43246703 43246703 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246703 43246703 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.388 p.E130Q 1.000 NULL NULL - no_errors HEXIM2 HGNC HEXIM2 124790 genome.wustl.edu 37 17 43246907 43246907 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246907 43246907 G A SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.592 p.E198K 1.000 NULL NULL - no_errors HEXIM2 HGNC HEXIM2 124790 genome.wustl.edu 37 17 43246949 43246949 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246949 43246949 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.634 p.E212Q 1.000 NULL NULL - no_errors HEXIM2 HGNC HEXIM2 124790 genome.wustl.edu 37 17 43247063 43247063 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43247063 43247063 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.748 p.E250Q 1.000 NULL NULL - no_errors HEXIM2 HGNC HIC2 23119 genome.wustl.edu 37 22 21799586 21799586 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21799586 21799586 C A SNP HIC2 ENST00000407464 human ensembl 70_37 +1 known silent c.402 p.L134 0.993 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC HIF1A 3091 genome.wustl.edu 37 14 62162552 62162552 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 62162552 62162552 G C SNP HIF1A ENST00000337138 human ensembl 70_37 +1 known missense c.30 p.K10N 1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC HIGD2A 192286 genome.wustl.edu 37 5 175816403 175816403 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 175816403 175816403 C G SNP HIGD2A ENST00000274787 human ensembl 70_37 +1 known missense c.226 p.Q76E 1.000 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD2A HGNC HILS1 373861 genome.wustl.edu 37 17 48258430 48258430 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48258430 48258430 G A SNP HILS1 ENST00000504307 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors HILS1 HGNC HIST1H1B 3009 genome.wustl.edu 37 6 27834714 27834714 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 27834714 27834714 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.594 p.P198 0.208 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC HIST1H2BL 8340 genome.wustl.edu 37 6 27775463 27775463 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 27775463 27775463 G C SNP HIST1H2BL ENST00000377401 human ensembl 70_37 -1 known missense c.222 p.I74M 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC HIST1H4F 8361 genome.wustl.edu 37 6 26240726 26240726 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26240726 26240726 G C SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known missense c.73 p.D25H 1.000 superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC HIST1H4G 8369 genome.wustl.edu 37 6 26247124 26247124 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26247124 26247124 G C SNP HIST1H4G ENST00000244537 human ensembl 70_37 -1 known missense c.82 p.Q28E 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 - no_errors HIST1H4G HGNC HIST2H2BE 8349 genome.wustl.edu 37 1 149857834 149857834 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 149857834 149857834 G A SNP HIST2H2BE ENST00000369155 human ensembl 70_37 -1 known silent c.357 p.V119 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC HIVEP2 3097 genome.wustl.edu 37 6 143074955 143074955 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 143074955 143074955 G C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.6630 p.V2210 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HK1 3098 genome.wustl.edu 37 10 71142457 71142457 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 71142457 71142457 G A SNP HK1 ENST00000448642 human ensembl 70_37 +1 known missense c.1585 p.E529K 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC HLA-A 3105 genome.wustl.edu 37 6 29910647 29910647 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29910647 29910647 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.187 p.D63H 0.899 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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 HLA-A 3105 genome.wustl.edu 37 6 29910744 29910744 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29910744 29910744 C G SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.284 p.S95* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 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 HLA-B 3106 genome.wustl.edu 37 6 31324477 31324477 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31324477 31324477 G A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.331 p.Q111* 1.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 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-B HGNC HLA-F-AS1 285830 genome.wustl.edu 37 6 29716805 29716805 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29716805 29716805 G A SNP HLA-F-AS1 ENST00000399247 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors HLA-F-AS1 HGNC HLA-L 3139 genome.wustl.edu 37 6 30227572 30227572 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30227572 30227572 C G SNP HLA-L ENST00000482052 human ensembl 70_37 +1 known rna NULL NULL 0.062 - - - no_errors HLA-L HGNC HLTF 6596 genome.wustl.edu 37 3 148778607 148778607 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 148778607 148778607 G C SNP HLTF ENST00000310053 human ensembl 70_37 -1 known nonsense c.1199 p.S400* 1.000 smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC HMGXB3 22993 genome.wustl.edu 37 5 149431695 149431695 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 149431695 149431695 G A SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known silent c.3819 p.Q1273 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC HMHA1 23526 genome.wustl.edu 37 19 1081908 1081908 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 1081908 1081908 C A SNP HMHA1 ENST00000313093 human ensembl 70_37 +1 known nonsense c.2465 p.S822* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC HNRNPC 3183 genome.wustl.edu 37 14 21679390 21679390 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21679390 21679390 C T SNP HNRNPC ENST00000320084 human ensembl 70_37 -1 known missense c.913 p.D305N 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC HNRNPM 4670 genome.wustl.edu 37 19 8532465 8532465 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 8532465 8532465 G C SNP HNRNPM ENST00000325495 human ensembl 70_37 +1 known missense c.831 p.K277N 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC HNRNPR 10236 genome.wustl.edu 37 1 23648042 23648042 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 23648042 23648042 C T SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.790 p.E264K 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 HNRNPR 10236 genome.wustl.edu 37 1 23650114 23650114 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 23650114 23650114 G C SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.610 p.Q204E 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 HOPX 84525 genome.wustl.edu 37 4 57523943 57523943 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 57523943 57523943 C T SNP HOPX ENST00000554144 human ensembl 70_37 -1 known missense c.40 p.E14K 0.001 NULL superfamily_Homeodomain-like - no_errors HOPX HGNC HOXB3 3213 genome.wustl.edu 37 17 46628394 46628394 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 46628394 46628394 G T SNP HOXB3 ENST00000311626 human ensembl 70_37 -1 known missense c.598 p.L200M 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC HOXB3 3213 genome.wustl.edu 37 17 46628395 46628395 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 46628395 46628395 C T SNP HOXB3 ENST00000311626 human ensembl 70_37 -1 known silent c.597 p.Q199 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC HOXC6 3223 genome.wustl.edu 37 12 54422601 54422601 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 54422601 54422601 C G SNP HOXC6 ENST00000243108 human ensembl 70_37 +1 known nonsense c.296 p.S99* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC6 HGNC HPD 3242 genome.wustl.edu 37 12 122294313 122294313 + Splice_Site SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 122294313 122294313 C A SNP HPD ENST00000289004 human ensembl 70_37 -1 known splice_site c.242-1 e6-1 1.000 - - - no_errors HPD HGNC HPS5 11234 genome.wustl.edu 37 11 18313229 18313229 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18313229 18313229 G A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.2200 p.R734W 0.874 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC HRC 3270 genome.wustl.edu 37 19 49658077 49658077 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 49658077 49658077 C T SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.418 p.E140K 0.342 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC HS3ST3A1 9955 genome.wustl.edu 37 17 13503886 13503886 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 13503886 13503886 G A SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known silent c.561 p.F187 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118788278 118788278 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 118788278 118788278 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.8 p.S3L 0.006 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118835193 118835193 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 118835193 118835193 C G SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.1154 p.S385C 0.008 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSD3B1 3283 genome.wustl.edu 37 1 120056474 120056474 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 120056474 120056474 G C SNP HSD3B1 ENST00000235547 human ensembl 70_37 +1 known missense c.334 p.E112Q 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC HSF1 3297 genome.wustl.edu 37 8 145535024 145535024 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145535024 145535024 C G SNP HSF1 ENST00000528838 human ensembl 70_37 +1 known missense c.582 p.I194M 0.998 NULL pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC HSPA1B 3304 genome.wustl.edu 37 6 31797431 31797431 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31797431 31797431 G C SNP HSPA1B ENST00000375650 human ensembl 70_37 +1 known missense c.1704 p.K568N 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC HSPA1L 3305 genome.wustl.edu 37 6 31778931 31778931 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31778931 31778931 C T SNP HSPA1L ENST00000375654 human ensembl 70_37 -1 known silent c.819 p.K273 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC HSPA2 3306 genome.wustl.edu 37 14 65008969 65008969 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 65008969 65008969 C T SNP HSPA2 ENST00000247207 human ensembl 70_37 +1 known missense c.1402 p.P468S 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22178679 22178679 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22178679 22178679 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.6772 p.E2258K 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22181343 22181343 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22181343 22181343 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known nonsense c.6131 p.S2044* 0.967 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HTR1D 3352 genome.wustl.edu 37 1 23519981 23519981 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 23519981 23519981 G A SNP HTR1D ENST00000314113 human ensembl 70_37 -1 known silent c.732 p.L244 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC HTR3D 200909 genome.wustl.edu 37 3 183756156 183756156 + Splice_Site SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183756156 183756156 G A SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known splice_site c.880-1 e7-1 0.001 - - - no_errors HTR3D HGNC HTT 3064 genome.wustl.edu 37 4 3117082 3117082 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 3117082 3117082 C T SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.799 p.R267W 0.997 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC HTT 3064 genome.wustl.edu 37 4 3201506 3201506 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 3201506 3201506 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.5416 p.D1806N 0.974 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC HUWE1 10075 genome.wustl.edu 37 X 53579708 53579708 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 53579708 53579708 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.8641 p.E2881K 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HUWE1 10075 genome.wustl.edu 37 X 53591561 53591561 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 53591561 53591561 C G SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7003 p.E2335Q 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HYOU1 10525 genome.wustl.edu 37 11 118918983 118918983 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118918983 118918983 C T SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.2353 p.E785K 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC IARS2 55699 genome.wustl.edu 37 1 220311328 220311328 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 220311328 220311328 C T SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known silent c.2118 p.F706 0.994 pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ID1 3397 genome.wustl.edu 37 20 30193259 30193259 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 30193259 30193259 G C SNP ID1 ENST00000376112 human ensembl 70_37 +1 known missense c.69 p.K23N 0.985 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ID1 HGNC ID2 3398 genome.wustl.edu 37 2 8822502 8822502 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 8822502 8822502 C T SNP ID2 ENST00000234091 human ensembl 70_37 +1 known silent c.207 p.I69 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ID2 HGNC IDO2 169355 genome.wustl.edu 37 8 39806742 39806742 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 39806742 39806742 C G SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known missense c.97 p.H33D 0.993 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC IFI16 3428 genome.wustl.edu 37 1 159002440 159002440 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159002440 159002440 C T SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known nonsense c.1288 p.Q430* 0.002 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC IFI44 10561 genome.wustl.edu 37 1 79115876 79115876 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 79115876 79115876 G C SNP IFI44 ENST00000467790 human ensembl 70_37 +1 known rna NULL NULL 0.592 - - - no_errors IFI44 HGNC IFIT1 3434 genome.wustl.edu 37 10 91163267 91163267 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 91163267 91163267 C G SNP IFIT1 ENST00000371804 human ensembl 70_37 +1 known nonsense c.1235 p.S412* 0.006 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC IFITM3 10410 genome.wustl.edu 37 11 320663 320663 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 320663 320663 C G SNP IFITM3 ENST00000399808 human ensembl 70_37 -1 known missense c.151 p.E51Q 0.003 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors IFITM3 HGNC IFLTD1 160492 genome.wustl.edu 37 12 25699333 25699333 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 25699333 25699333 C G SNP IFLTD1 ENST00000458174 human ensembl 70_37 -1 known missense c.466 p.E156Q 0.993 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC IFT140 9742 genome.wustl.edu 37 16 1568328 1568328 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1568328 1568328 G C SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known missense c.4071 p.I1357M 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC IFT140 9742 genome.wustl.edu 37 16 1614148 1614148 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1614148 1614148 C G SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known silent c.1917 p.V639 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC IFT140 9742 genome.wustl.edu 37 16 1642482 1642482 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1642482 1642482 G C SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known silent c.477 p.L159 0.005 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC IFT74 80173 genome.wustl.edu 37 9 27062636 27062636 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 27062636 27062636 G C SNP IFT74 ENST00000380062 human ensembl 70_37 +1 known missense c.1705 p.E569Q 1.000 NULL NULL - no_errors IFT74 HGNC IGF1R 3480 genome.wustl.edu 37 15 99434640 99434640 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 99434640 99434640 G C SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known missense c.727 p.D243H 0.991 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGF1R 3480 genome.wustl.edu 37 15 99434645 99434645 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 99434645 99434645 C A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known missense c.732 p.N244K 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGF2BP1 10642 genome.wustl.edu 37 17 47119632 47119632 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 47119632 47119632 G A SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201180634 201180634 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201180634 201180634 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.6613 p.E2205K 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IGSF10 285313 genome.wustl.edu 37 3 151164886 151164886 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 151164886 151164886 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known silent c.2883 p.V961 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IGSF11 152404 genome.wustl.edu 37 3 118647442 118647442 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 118647442 118647442 G C SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known nonsense c.338 p.S113* 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC IGSF22 283284 genome.wustl.edu 37 11 18731108 18731108 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18731108 18731108 C T SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.2824 p.E942K 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC IGSF22 283284 genome.wustl.edu 37 11 18733886 18733886 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18733886 18733886 G A SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.2141 p.S714L 0.018 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC IL11 3589 genome.wustl.edu 37 19 55879861 55879861 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55879861 55879861 C T SNP IL11 ENST00000264563 human ensembl 70_37 -1 known missense c.257 p.G86E 0.979 pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian,prints_Interleukin-11 - no_errors IL11 HGNC IL12RB1 3594 genome.wustl.edu 37 19 18194269 18194269 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 18194269 18194269 C A SNP IL12RB1 ENST00000430026 human ensembl 70_37 -1 known missense c.97 p.D33Y 0.755 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC IL17RC 84818 genome.wustl.edu 37 3 9974953 9974953 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9974953 9974953 C G SNP IL17RC ENST00000295981 human ensembl 70_37 +1 known silent c.2052 p.L684 1.000 pfam_SEFIR pfam_SEFIR - no_errors IL17RC HGNC IL18R1 8809 genome.wustl.edu 37 2 103003430 103003430 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 103003430 103003430 G A SNP IL18R1 ENST00000233957 human ensembl 70_37 +1 known missense c.919 p.D307N 0.012 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC IL1RAP 3556 genome.wustl.edu 37 3 190322170 190322170 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 190322170 190322170 C G SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known silent c.318 p.L106 1.000 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC IL1RAP 3556 genome.wustl.edu 37 3 190374011 190374011 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 190374011 190374011 C G SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1679 p.S560C 1.000 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC IL21R 50615 genome.wustl.edu 37 16 27457337 27457337 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 27457337 27457337 G C SNP IL21R ENST00000337929 human ensembl 70_37 +1 known missense c.795 p.K265N 0.992 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC IL9R 3581 genome.wustl.edu 37 X 155232553 155232553 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 155232553 155232553 C G SNP IL9R ENST00000369423 human ensembl 70_37 +1 known nonsense c.152 p.S51* 0.753 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ILDR1 286676 genome.wustl.edu 37 3 121741028 121741028 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121741028 121741028 C T SNP ILDR1 ENST00000460554 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ILDR1 HGNC IMMP1L 196294 genome.wustl.edu 37 11 31482222 31482222 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 31482222 31482222 C T SNP IMMP1L ENST00000278200 human ensembl 70_37 -1 known missense c.145 p.D49N 1.000 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Pept_S26A_signal_pept_1 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 IMPG1 3617 genome.wustl.edu 37 6 76631854 76631854 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 76631854 76631854 C G SNP IMPG1 ENST00000369950 human ensembl 70_37 -1 known silent c.2346 p.L782 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC INF2 64423 genome.wustl.edu 37 14 105179173 105179173 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105179173 105179173 C G SNP INF2 ENST00000392634 human ensembl 70_37 +1 known missense c.2619 p.I873M 0.129 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC INPP5B 3633 genome.wustl.edu 37 1 38409491 38409491 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 38409491 38409491 G C SNP INPP5B ENST00000373023 human ensembl 70_37 -1 known missense c.227 p.S76W 0.945 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC INPP5K 51763 genome.wustl.edu 37 17 1416750 1416750 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 1416750 1416750 G C SNP INPP5K ENST00000421807 human ensembl 70_37 -1 known missense c.258 p.I86M 0.997 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC INSIG2 51141 genome.wustl.edu 37 2 118865890 118865890 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 118865890 118865890 C T SNP INSIG2 ENST00000245787 human ensembl 70_37 +1 known nonsense c.670 p.Q224* 1.000 NULL pfam_INSIG_fam - no_errors INSIG2 HGNC INSR 3643 genome.wustl.edu 37 19 7132175 7132175 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 7132175 7132175 C T SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.2836 p.D946N 0.995 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC INSRR 3645 genome.wustl.edu 37 1 156816359 156816359 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156816359 156816359 G A SNP INSRR ENST00000368195 human ensembl 70_37 -1 known missense c.1762 p.H588Y 0.858 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC INTS1 26173 genome.wustl.edu 37 7 1515923 1515923 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 1515923 1515923 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.5932 p.E1978K 0.771 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC INTS2 57508 genome.wustl.edu 37 17 59958458 59958458 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 59958458 59958458 C T SNP INTS2 ENST00000444766 human ensembl 70_37 -1 known missense c.2188 p.E730K 1.000 NULL NULL - no_errors INTS2 HGNC INTS3 65123 genome.wustl.edu 37 1 153701255 153701255 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 153701255 153701255 G C SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.145 p.E49Q 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC INVS 27130 genome.wustl.edu 37 9 103015233 103015233 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 103015233 103015233 C G SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.1279 p.L427V 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,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 INVS 27130 genome.wustl.edu 37 9 103054935 103054935 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 103054935 103054935 G A SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.2396 p.R799K 0.745 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,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 IQCA1 79781 genome.wustl.edu 37 2 237396739 237396739 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 237396739 237396739 C T SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.552 p.M184I 1.000 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC IQGAP3 128239 genome.wustl.edu 37 1 156533585 156533585 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156533585 156533585 G A SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known nonsense c.469 p.Q157* 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC IRF2BP1 26145 genome.wustl.edu 37 19 46388059 46388059 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46388059 46388059 C T SNP IRF2BP1 ENST00000302165 human ensembl 70_37 -1 known missense c.974 p.G325E 0.998 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC IRF2BPL 64207 genome.wustl.edu 37 14 77493983 77493983 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 77493983 77493983 G C SNP IRF2BPL ENST00000238647 human ensembl 70_37 -1 known missense c.153 p.I51M 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC IRF6 3664 genome.wustl.edu 37 1 209963024 209963024 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 209963024 209963024 G C SNP IRF6 ENST00000367021 human ensembl 70_37 -1 known silent c.1167 p.L389 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC IRF9 10379 genome.wustl.edu 37 14 24635117 24635117 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24635117 24635117 C T SNP IRF9 ENST00000396864 human ensembl 70_37 +1 known silent c.1053 p.F351 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC IRGQ 126298 genome.wustl.edu 37 19 44097210 44097210 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 44097210 44097210 G C SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known silent c.840 p.G280 0.005 NULL NULL - no_errors IRGQ HGNC ISY1 57461 genome.wustl.edu 37 3 128849028 128849028 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128849028 128849028 C T SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC ITGA2 3673 genome.wustl.edu 37 5 52351441 52351441 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 52351441 52351441 G A SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ITGA6 3655 genome.wustl.edu 37 2 173352121 173352121 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 173352121 173352121 G C SNP ITGA6 ENST00000264106 human ensembl 70_37 +1 known silent c.2217 p.L739 0.014 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ITGAV 3685 genome.wustl.edu 37 2 187455218 187455218 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 187455218 187455218 C T SNP ITGAV ENST00000261023 human ensembl 70_37 +1 known silent c.153 p.F51 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ITGAV 3685 genome.wustl.edu 37 2 187531487 187531487 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 187531487 187531487 G A SNP ITGAV ENST00000261023 human ensembl 70_37 +1 known silent c.2223 p.V741 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ITGAX 3687 genome.wustl.edu 37 16 31371752 31371752 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31371752 31371752 G A SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known missense c.829 p.D277N 0.026 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ITGB1BP1 9270 genome.wustl.edu 37 2 9554375 9554375 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 9554375 9554375 G C SNP ITGB1BP1 ENST00000355346 human ensembl 70_37 -1 known missense c.83 p.S28C 1.000 pfam_Integrin-bd_ICAP-1 pfam_Integrin-bd_ICAP-1,smart_PTyr_interaction_dom - no_errors ITGB1BP1 HGNC ITGB6 3694 genome.wustl.edu 37 2 161029180 161029180 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 161029180 161029180 G C SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known missense c.821 p.S274C 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC ITPR1 3708 genome.wustl.edu 37 3 4747945 4747945 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 4747945 4747945 G A SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.4707 p.M1569I 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,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ITPR2 3709 genome.wustl.edu 37 12 26709260 26709260 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 26709260 26709260 C G SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.4870 p.E1624Q 0.997 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ITPR3 3710 genome.wustl.edu 37 6 33647815 33647815 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33647815 33647815 G A SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known missense c.4129 p.E1377K 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 ITSN1 6453 genome.wustl.edu 37 21 35257379 35257379 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 35257379 35257379 G A SNP ITSN1 ENST00000381285 human ensembl 70_37 +1 known missense c.4711 p.E1571K 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC JAG1 182 genome.wustl.edu 37 20 10620521 10620521 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 10620521 10620521 C T SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known silent c.3282 p.R1094 0.999 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC JAG1 182 genome.wustl.edu 37 20 10639327 10639327 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 10639327 10639327 G C SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known missense c.483 p.I161M 0.972 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC JAK3 3718 genome.wustl.edu 37 19 17948788 17948788 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17948788 17948788 C G SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known missense c.1654 p.E552Q 0.992 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC JARID2 3720 genome.wustl.edu 37 6 15507417 15507417 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 15507417 15507417 C G SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.2592 p.H864Q 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC JAZF1 221895 genome.wustl.edu 37 7 27935034 27935034 + Missense_Mutation SNP A A T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 27935034 27935034 A T SNP JAZF1 ENST00000283928 human ensembl 70_37 -1 known missense c.190 p.F64I 1.000 NULL smart_Znf_C2H2-like - no_errors JAZF1 HGNC JUN 3725 genome.wustl.edu 37 1 59248413 59248413 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 59248413 59248413 G A SNP JUN ENST00000371222 human ensembl 70_37 -1 known silent c.330 p.F110 0.999 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC JUNB 3726 genome.wustl.edu 37 19 12902990 12902990 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12902990 12902990 C T SNP JUNB ENST00000302754 human ensembl 70_37 +1 known silent c.405 p.F135 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC KALRN 8997 genome.wustl.edu 37 3 123987683 123987683 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 123987683 123987683 G C SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.544 p.E182Q 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC KALRN 8997 genome.wustl.edu 37 3 124369774 124369774 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 124369774 124369774 G A SNP KALRN ENST00000360013 human ensembl 70_37 +1 known silent c.5781 p.L1927 0.999 superfamily_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC KANSL1-AS1 644246 genome.wustl.edu 37 17 44271224 44271224 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 44271224 44271224 G A SNP KANSL1-AS1 ENST00000572973 human ensembl 70_37 +1 known rna NULL NULL 0.978 - - - no_errors KANSL1-AS1 HGNC KAT2B 8850 genome.wustl.edu 37 3 20178473 20178473 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 20178473 20178473 C G SNP KAT2B ENST00000263754 human ensembl 70_37 +1 known missense c.1789 p.H597D 1.000 pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC KATNAL2 83473 genome.wustl.edu 37 18 44572878 44572878 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 44572878 44572878 G A SNP KATNAL2 ENST00000356157 human ensembl 70_37 +1 novel silent c.102 p.S34 1.000 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_ATPase_AAA_core,pfam_LisH_dimerisation_subgr,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_LisH_dimerisation,smart_AAA+_ATPase,pfscan_LisH_dimerisation - no_errors KATNAL2 HGNC KAZN 23254 genome.wustl.edu 37 1 15361347 15361347 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 15361347 15361347 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.521 p.R174Q 0.985 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC KBTBD2 25948 genome.wustl.edu 37 7 32909521 32909521 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 32909521 32909521 C T SNP KBTBD2 ENST00000304056 human ensembl 70_37 -1 known silent c.1308 p.L436 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC KCNA2 3737 genome.wustl.edu 37 1 111147189 111147189 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 111147189 111147189 G A SNP KCNA2 ENST00000316361 human ensembl 70_37 -1 known silent c.216 p.L72 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC KCNA6 3742 genome.wustl.edu 37 12 4920615 4920615 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 4920615 4920615 G A SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known missense c.1408 p.E470K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC KCNAB1 7881 genome.wustl.edu 37 3 156175293 156175293 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 156175293 156175293 G C SNP KCNAB1 ENST00000490337 human ensembl 70_37 +1 known missense c.409 p.D137H 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC KCNC3 3748 genome.wustl.edu 37 19 50827007 50827007 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 50827007 50827007 G C SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known silent c.1203 p.L401 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC KCND2 3751 genome.wustl.edu 37 7 120387853 120387853 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 120387853 120387853 G A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known missense c.1834 p.D612N 0.995 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC KCNE2 9992 genome.wustl.edu 37 21 35742901 35742901 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 35742901 35742901 G C SNP KCNE2 ENST00000290310 human ensembl 70_37 +1 known missense c.124 p.D42H 0.019 prints_K_chnl_volt-dep_bsu_KCNE2 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE2 - no_errors KCNE2 HGNC KCNG2 26251 genome.wustl.edu 37 18 77659699 77659699 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 77659699 77659699 C T SNP KCNG2 ENST00000316249 human ensembl 70_37 +1 known silent c.1284 p.A428 0.429 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC KCNH1 3756 genome.wustl.edu 37 1 210856728 210856728 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 210856728 210856728 G A SNP KCNH1 ENST00000271751 human ensembl 70_37 -1 known silent c.2865 p.L955 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC KCNH2 3757 genome.wustl.edu 37 7 150647061 150647061 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150647061 150647061 C T SNP KCNH2 ENST00000430723 human ensembl 70_37 -1 known missense c.2593 p.E865K 0.001 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH2 HGNC KCNH2 3757 genome.wustl.edu 37 7 150648870 150648870 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150648870 150648870 C G SNP KCNH2 ENST00000262186 human ensembl 70_37 -1 known silent c.1611 p.R537 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC KCNJ1 3758 genome.wustl.edu 37 11 128709914 128709914 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 128709914 128709914 G C SNP KCNJ1 ENST00000392664 human ensembl 70_37 -1 known missense c.282 p.F94L 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC KCNJ6 3763 genome.wustl.edu 37 21 39087250 39087250 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 39087250 39087250 C G SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known silent c.210 p.V70 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC KCNJ9 3765 genome.wustl.edu 37 1 160054516 160054516 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160054516 160054516 C G SNP KCNJ9 ENST00000368088 human ensembl 70_37 +1 known missense c.696 p.F232L 0.997 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC KCNK2 3776 genome.wustl.edu 37 1 215259917 215259917 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 215259917 215259917 C G SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known missense c.253 p.Q85E 1.000 prints_2pore_dom_K_chnl_TASK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC KCNN3 3782 genome.wustl.edu 37 1 154744744 154744744 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 154744744 154744744 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known silent c.1155 p.F385 1.000 pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC KCNQ3 3786 genome.wustl.edu 37 8 133492601 133492601 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 133492601 133492601 C G SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known missense c.179 p.G60A 0.990 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC KCNQ5 56479 genome.wustl.edu 37 6 73879568 73879568 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 73879568 73879568 G A SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known missense c.1598 p.R533Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC KCNT2 343450 genome.wustl.edu 37 1 196196859 196196859 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 196196859 196196859 C T SNP KCNT2 ENST00000498426 human ensembl 70_37 -1 known rna NULL NULL 0.214 - - - no_errors KCNT2 HGNC KCTD18 130535 genome.wustl.edu 37 2 201354957 201354957 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201354957 201354957 G C SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.1147 p.P383A 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC KDM3A 55818 genome.wustl.edu 37 2 86697389 86697389 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 86697389 86697389 G A SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.1582 p.E528K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC KDM4A-AS1 100132774 genome.wustl.edu 37 1 44169066 44169066 + RNA DEL T T - TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44169066 44169066 T - DEL KDM4A-AS1 ENST00000453015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KDM4A-AS1 HGNC KDM4D 55693 genome.wustl.edu 37 11 94730884 94730884 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94730884 94730884 G C SNP KDM4D ENST00000335080 human ensembl 70_37 +1 known missense c.348 p.Q116H 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC KDM4D 55693 genome.wustl.edu 37 11 94731840 94731840 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94731840 94731840 C T SNP KDM4D ENST00000335080 human ensembl 70_37 +1 known missense c.1304 p.S435F 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC KDM4E 390245 genome.wustl.edu 37 11 94760060 94760060 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94760060 94760060 C G SNP KDM4E ENST00000450979 human ensembl 70_37 +1 known missense c.1339 p.Q447E 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC KDM5A 5927 genome.wustl.edu 37 12 402293 402293 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 402293 402293 C G SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.4498 p.D1500H 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KDM6B 23135 genome.wustl.edu 37 17 7750495 7750495 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7750495 7750495 C T SNP KDM6B ENST00000254846 human ensembl 70_37 +1 known missense c.982 p.R328W 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC KIAA0020 9933 genome.wustl.edu 37 9 2831026 2831026 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 2831026 2831026 C T SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known missense c.613 p.D205N 0.990 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC KIAA0226 9711 genome.wustl.edu 37 3 197408081 197408081 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197408081 197408081 C G SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.2349 p.K783N 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC KIAA0226 9711 genome.wustl.edu 37 3 197408162 197408162 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197408162 197408162 C G SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.2268 p.M756I 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC KIAA0226 9711 genome.wustl.edu 37 3 197410221 197410221 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197410221 197410221 G A SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.1937 p.S646L 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC KIAA0232 9778 genome.wustl.edu 37 4 6863938 6863938 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 6863938 6863938 C G SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.1829 p.S610C 1.000 NULL NULL - no_errors KIAA0232 HGNC KIAA0247 9766 genome.wustl.edu 37 14 70171394 70171394 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 70171394 70171394 C T SNP KIAA0247 ENST00000342745 human ensembl 70_37 +1 known silent c.393 p.L131 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors KIAA0247 HGNC KIAA0355 9710 genome.wustl.edu 37 19 34832880 34832880 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 34832880 34832880 G C SNP KIAA0355 ENST00000299505 human ensembl 70_37 +1 known missense c.2041 p.E681Q 1.000 NULL NULL - no_errors KIAA0355 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5457651 5457651 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 5457651 5457651 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.898 p.E300Q 0.067 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5462697 5462697 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 5462697 5462697 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.3250 p.D1084H 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123168401 123168401 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 123168401 123168401 C T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known nonsense c.5401 p.Q1801* 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1143 57456 genome.wustl.edu 37 3 44794861 44794861 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44794861 44794861 G C SNP KIAA1143 ENST00000296121 human ensembl 70_37 -1 known missense c.437 p.S146C 1.000 NULL NULL - no_errors KIAA1143 HGNC KIAA1210 57481 genome.wustl.edu 37 X 118223212 118223212 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 118223212 118223212 C G SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.1981 p.E661Q 0.000 NULL NULL - no_errors KIAA1210 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57179512 57179512 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 57179512 57179512 G C SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known missense c.504 p.Q168H 1.000 NULL NULL - no_errors KIAA1211 HGNC KIAA1239 57495 genome.wustl.edu 37 4 37445470 37445470 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 37445470 37445470 G A SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known silent c.1860 p.V620 0.993 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC KIAA1244 57221 genome.wustl.edu 37 6 138649264 138649264 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 138649264 138649264 G A SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.5108 p.G1703E 1.000 NULL pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC KIAA1257 57501 genome.wustl.edu 37 3 128696936 128696936 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128696936 128696936 G A SNP KIAA1257 ENST00000265068 human ensembl 70_37 -1 known missense c.760 p.P254S 0.000 NULL NULL - no_errors KIAA1257 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30316395 30316395 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 30316395 30316395 C G SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known silent c.2682 p.P894 0.000 NULL NULL - no_errors KIAA1462 HGNC KIAA1468 57614 genome.wustl.edu 37 18 59928806 59928806 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 59928806 59928806 G C SNP KIAA1468 ENST00000256858 human ensembl 70_37 +1 known missense c.2265 p.L755F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC KIAA1468 57614 genome.wustl.edu 37 18 59947665 59947665 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 59947665 59947665 G A SNP KIAA1468 ENST00000398130 human ensembl 70_37 +1 known missense c.3040 p.D1014N 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC KIAA1549 57670 genome.wustl.edu 37 7 138529164 138529164 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 138529164 138529164 G C SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.5350 p.Q1784E 0.094 NULL NULL - no_errors KIAA1549 HGNC KIAA1644 85352 genome.wustl.edu 37 22 44681447 44681447 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 44681447 44681447 G C SNP KIAA1644 ENST00000381176 human ensembl 70_37 -1 putative missense c.460 p.R154G 0.998 NULL NULL - no_errors KIAA1644 HGNC KIAA1919 91749 genome.wustl.edu 37 6 111587259 111587259 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 111587259 111587259 C G SNP KIAA1919 ENST00000368847 human ensembl 70_37 +1 known nonsense c.494 p.S165* 0.568 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8873633 8873633 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 8873633 8873633 C G SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.3994 p.E1332Q 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIF18A 81930 genome.wustl.edu 37 11 28104435 28104435 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 28104435 28104435 C T SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known missense c.1230 p.M410I 0.023 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC KIF1C 10749 genome.wustl.edu 37 17 4904074 4904074 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4904074 4904074 C G SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.114 p.I38M 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC KIF1C 10749 genome.wustl.edu 37 17 4916990 4916990 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4916990 4916990 G C SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.1534 p.E512Q 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC KIF20A 10112 genome.wustl.edu 37 5 137518570 137518570 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 137518570 137518570 G A SNP KIF20A ENST00000394894 human ensembl 70_37 +1 known silent c.723 p.L241 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC KIF20B 9585 genome.wustl.edu 37 10 91532517 91532517 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 91532517 91532517 C G SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.5404 p.Q1802E 0.054 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC KIF22 3835 genome.wustl.edu 37 16 29802097 29802097 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29802097 29802097 C T SNP KIF22 ENST00000160827 human ensembl 70_37 +1 known missense c.17 p.S6L 0.000 NULL pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF22 HGNC KIF22 3835 genome.wustl.edu 37 16 29816249 29816249 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29816249 29816249 G C SNP KIF22 ENST00000160827 human ensembl 70_37 +1 known missense c.1792 p.E598Q 0.022 superfamily_RuvA_2-like pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF22 HGNC KIF25-AS1 100505879 genome.wustl.edu 37 6 168396547 168396547 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 168396547 168396547 C T SNP KIF25-AS1 ENST00000414364 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors KIF25-AS1 HGNC KIF26B 55083 genome.wustl.edu 37 1 245850330 245850330 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 245850330 245850330 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.4045 p.D1349N 0.256 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIF4A 24137 genome.wustl.edu 37 X 69625690 69625690 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 69625690 69625690 G C SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.2911 p.E971Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC KIF5C 3800 genome.wustl.edu 37 2 149837962 149837962 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149837962 149837962 G C SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.1456 p.E486Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC KIF5C 3800 genome.wustl.edu 37 2 149838030 149838030 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149838030 149838030 G T SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.1524 p.K508N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC KIF5C 3800 genome.wustl.edu 37 2 149838051 149838051 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149838051 149838051 G A SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known silent c.1545 p.L515 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC KIF7 374654 genome.wustl.edu 37 15 90190196 90190196 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 90190196 90190196 C T SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known silent c.1653 p.L551 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KIF7 374654 genome.wustl.edu 37 15 90192361 90192361 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 90192361 90192361 G C SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known nonsense c.767 p.S256* 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KIFC3 3801 genome.wustl.edu 37 16 57806156 57806156 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57806156 57806156 C G SNP KIFC3 ENST00000379655 human ensembl 70_37 -1 known silent c.360 p.V120 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC KIR2DL3 3804 genome.wustl.edu 37 19 55263963 55263963 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55263963 55263963 G C SNP KIR2DL3 ENST00000342376 human ensembl 70_37 +1 known missense c.1018 p.E340Q 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC KLC2 64837 genome.wustl.edu 37 11 66033433 66033433 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 66033433 66033433 C T SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known missense c.1552 p.R518W 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC KLHL15 80311 genome.wustl.edu 37 X 24006133 24006133 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 24006133 24006133 C T SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known missense c.1720 p.E574K 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC KLHL3 26249 genome.wustl.edu 37 5 136964039 136964039 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 136964039 136964039 C T SNP KLHL3 ENST00000309755 human ensembl 70_37 -1 known missense c.1538 p.G513E 0.845 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC KLHL6 89857 genome.wustl.edu 37 3 183273245 183273245 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183273245 183273245 C T SNP KLHL6 ENST00000341319 human ensembl 70_37 -1 known missense c.197 p.R66Q 0.668 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC KLHL8 57563 genome.wustl.edu 37 4 88099767 88099767 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 88099767 88099767 G C SNP KLHL8 ENST00000273963 human ensembl 70_37 -1 known missense c.958 p.L320V 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC KLK3 354 genome.wustl.edu 37 19 51361728 51361728 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51361728 51361728 G C SNP KLK3 ENST00000326003 human ensembl 70_37 +1 known missense c.507 p.K169N 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK3 HGNC KPNA1 3836 genome.wustl.edu 37 3 122186234 122186234 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122186234 122186234 C G SNP KPNA1 ENST00000344337 human ensembl 70_37 -1 known missense c.172 p.E58Q 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC KRBA1 84626 genome.wustl.edu 37 7 149419615 149419615 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 149419615 149419615 G C SNP KRBA1 ENST00000255992 human ensembl 70_37 +1 known missense c.569 p.R190T 0.000 NULL NULL - no_errors KRBA1 HGNC KRT1 3848 genome.wustl.edu 37 12 53072464 53072464 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53072464 53072464 C T SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.668 p.R223K 0.049 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC KRT121P 85349 genome.wustl.edu 37 12 52647411 52647411 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52647411 52647411 C T SNP KRT121P ENST00000529785 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC KRT13 3860 genome.wustl.edu 37 17 39659972 39659972 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39659972 39659972 C T SNP KRT13 ENST00000246635 human ensembl 70_37 -1 known silent c.501 p.L167 0.325 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC KRT13 3860 genome.wustl.edu 37 17 39659978 39659978 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39659978 39659978 C T SNP KRT13 ENST00000246635 human ensembl 70_37 -1 known splice_site c.496-1 e2-1 1.000 - - - no_errors KRT13 HGNC KRT23 25984 genome.wustl.edu 37 17 39087627 39087627 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39087627 39087627 G C SNP KRT23 ENST00000209718 human ensembl 70_37 -1 known silent c.477 p.L159 1.000 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_I - no_errors KRT23 HGNC KRT35 3886 genome.wustl.edu 37 17 39634664 39634664 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39634664 39634664 C G SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known silent c.948 p.L316 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC KRT39 390792 genome.wustl.edu 37 17 39118419 39118419 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39118419 39118419 G A SNP KRT39 ENST00000355612 human ensembl 70_37 -1 known nonsense c.991 p.R331* 1.000 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC KRT72 140807 genome.wustl.edu 37 12 52980737 52980737 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52980737 52980737 C G SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1338 p.V446 0.998 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC KRT72 140807 genome.wustl.edu 37 12 52981579 52981579 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52981579 52981579 C T SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1146 p.L382 0.997 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC KRT76 51350 genome.wustl.edu 37 12 53162761 53162761 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53162761 53162761 G A SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known silent c.1653 p.V551 0.008 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC KRT76 51350 genome.wustl.edu 37 12 53162858 53162858 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53162858 53162858 G C SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known missense c.1556 p.S519C 0.553 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC KRT82 3888 genome.wustl.edu 37 12 52793840 52793840 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52793840 52793840 C G SNP KRT82 ENST00000257974 human ensembl 70_37 -1 known missense c.871 p.E291Q 0.999 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC KRT85 3891 genome.wustl.edu 37 12 52756725 52756725 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52756725 52756725 C G SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.990 p.E330D 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC KRT8P12 90133 genome.wustl.edu 37 3 160285940 160285940 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 160285940 160285940 C G SNP KRT8P12 ENST00000468527 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors KRT8P12 HGNC KRTAP10-7 386675 genome.wustl.edu 37 21 46021247 46021247 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 46021247 46021247 C T SNP KRTAP10-7 ENST00000380102 human ensembl 70_37 +1 known silent c.726 p.V242 0.932 NULL NULL - no_errors KRTAP10-7 HGNC KRTCAP2 200185 genome.wustl.edu 37 1 155142356 155142356 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155142356 155142356 G A SNP KRTCAP2 ENST00000480091 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors KRTCAP2 HGNC KTN1 3895 genome.wustl.edu 37 14 56119797 56119797 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 56119797 56119797 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.2757 p.L919F 0.656 NULL NULL - no_errors KTN1 HGNC L3MBTL2 83746 genome.wustl.edu 37 22 41617260 41617260 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 41617260 41617260 C T SNP L3MBTL2 ENST00000216237 human ensembl 70_37 +1 known missense c.911 p.S304F 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC L3MBTL3 84456 genome.wustl.edu 37 6 130363855 130363855 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 130363855 130363855 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known missense c.11 p.S4Y 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC LACE1 246269 genome.wustl.edu 37 6 108841001 108841001 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 108841001 108841001 G C SNP LACE1 ENST00000368977 human ensembl 70_37 +1 known missense c.1305 p.L435F 1.000 NULL pfam_ATPase_AFG1-like - no_errors LACE1 HGNC LAMA2 3908 genome.wustl.edu 37 6 129777516 129777516 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 129777516 129777516 G C SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known silent c.6744 p.L2248 0.952 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA2 3908 genome.wustl.edu 37 6 129828747 129828747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 129828747 129828747 G C SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.8817 p.Q2939H 0.976 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA4 3910 genome.wustl.edu 37 6 112535211 112535211 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 112535211 112535211 G C SNP LAMA4 ENST00000431543 human ensembl 70_37 -1 putative missense c.358 p.Q120E 0.032 NULL NULL - no_errors LAMA4 HGNC LAMC2 3918 genome.wustl.edu 37 1 183177098 183177098 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 183177098 183177098 C G SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known silent c.162 p.L54 1.000 pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC LAMC3 10319 genome.wustl.edu 37 9 133963004 133963004 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 133963004 133963004 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.4372 p.E1458K 0.277 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC LANCL3 347404 genome.wustl.edu 37 X 37431522 37431522 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 37431522 37431522 C T SNP LANCL3 ENST00000378619 human ensembl 70_37 +1 known silent c.399 p.L133 0.864 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC LARGE 9215 genome.wustl.edu 37 22 33670487 33670487 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 33670487 33670487 C G SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.2197 p.E733Q 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC LARGE 9215 genome.wustl.edu 37 22 34157361 34157361 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 34157361 34157361 C T SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.103 p.E35K 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC LAX1 54900 genome.wustl.edu 37 1 203743702 203743702 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 203743702 203743702 G C SNP LAX1 ENST00000442561 human ensembl 70_37 +1 known missense c.1090 p.E364Q 0.021 NULL NULL - no_errors LAX1 HGNC LCLAT1 253558 genome.wustl.edu 37 2 30748456 30748456 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 30748456 30748456 C T SNP LCLAT1 ENST00000309052 human ensembl 70_37 +1 known silent c.114 p.I38 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC LCORL 254251 genome.wustl.edu 37 4 17885383 17885383 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 17885383 17885383 G A SNP LCORL ENST00000382226 human ensembl 70_37 -1 known missense c.1769 p.S590L 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC LCP2 3937 genome.wustl.edu 37 5 169697724 169697724 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169697724 169697724 G A SNP LCP2 ENST00000046794 human ensembl 70_37 -1 known silent c.522 p.I174 0.851 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC LEKR1 389170 genome.wustl.edu 37 3 156642386 156642386 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 156642386 156642386 G C SNP LEKR1 ENST00000491763 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors LEKR1 Uniprot_genename LENG8 114823 genome.wustl.edu 37 19 54972070 54972070 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 54972070 54972070 G C SNP LENG8 ENST00000326764 human ensembl 70_37 +1 known missense c.2365 p.D789H 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC LEPR 3953 genome.wustl.edu 37 1 66036336 66036336 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 66036336 66036336 C G SNP LEPR ENST00000349533 human ensembl 70_37 +1 known nonsense c.221 p.S74* 0.545 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LEPREL1 55214 genome.wustl.edu 37 3 189690765 189690765 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 189690765 189690765 C T SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.1597 p.D533N 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC LGALS16 148003 genome.wustl.edu 37 19 40148497 40148497 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40148497 40148497 C G SNP LGALS16 ENST00000594480 human ensembl 70_37 +1 known silent c.45 p.L15 0.006 NULL NULL - no_errors LGALS16 HGNC LGALS3BP 3959 genome.wustl.edu 37 17 76968555 76968555 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 76968555 76968555 G C SNP LGALS3BP ENST00000262776 human ensembl 70_37 -1 known missense c.861 p.F287L 0.998 pfam_BACK,smart_BACK pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors LGALS3BP HGNC LGALS8 3964 genome.wustl.edu 37 1 236708213 236708213 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 236708213 236708213 G C SNP LGALS8 ENST00000352231 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS8 HGNC LIG3 3980 genome.wustl.edu 37 17 33328397 33328397 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33328397 33328397 C G SNP LIG3 ENST00000378526 human ensembl 70_37 +1 known missense c.2453 p.S818C 0.960 superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC LIG4 3981 genome.wustl.edu 37 13 108862428 108862428 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 108862428 108862428 G A SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.1189 p.P397S 0.711 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC LILRA2 11027 genome.wustl.edu 37 19 55086320 55086320 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55086320 55086320 G A SNP LILRA2 ENST00000251377 human ensembl 70_37 +1 known missense c.475 p.E159K 0.374 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC LIMD1 8994 genome.wustl.edu 37 3 45714190 45714190 + Silent SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 45714190 45714190 A G SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known silent c.1650 p.Q550 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC LIN37 55957 genome.wustl.edu 37 19 36239657 36239657 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36239657 36239657 C G SNP LIN37 ENST00000301159 human ensembl 70_37 +1 known nonsense c.32 p.S11* 1.000 NULL NULL - no_errors LIN37 HGNC LINC00281 26080 genome.wustl.edu 37 22 21663369 21663369 + RNA SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21663369 21663369 T C SNP LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00281 HGNC LINC00319 284836 genome.wustl.edu 37 21 44870122 44870122 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 44870122 44870122 C T SNP LINC00319 ENST00000342757 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00319 HGNC LINC00346 283487 genome.wustl.edu 37 13 111522044 111522044 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 111522044 111522044 C T SNP LINC00346 ENST00000538077 human ensembl 70_37 -1 known missense c.94 p.D32N 0.000 NULL NULL - no_errors LINC00346 HGNC LINC00476 100128782 genome.wustl.edu 37 9 98638102 98638102 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 98638102 98638102 C G SNP LINC00476 ENST00000321517 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00476 HGNC LINC00596 414767 genome.wustl.edu 37 14 24403723 24403723 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24403723 24403723 G A SNP LINC00596 ENST00000559615 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00596 HGNC LINC00612 253128 genome.wustl.edu 37 12 9217250 9217250 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 9217250 9217250 G A SNP LINC00612 ENST00000399104 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00612 HGNC LINGO4 339398 genome.wustl.edu 37 1 151773446 151773446 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151773446 151773446 C G SNP LINGO4 ENST00000368820 human ensembl 70_37 -1 known missense c.1735 p.G579R 0.960 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC LNX1 84708 genome.wustl.edu 37 4 54347998 54347998 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 54347998 54347998 G A SNP LNX1 ENST00000263925 human ensembl 70_37 -1 known silent c.1374 p.L458 0.878 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC LOC100129434 100129434 genome.wustl.edu 37 2 56403137 56403137 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 56403137 56403137 C G SNP LOC100129434 ENST00000432793 human ensembl 70_37 -1 known rna NULL NULL 0.254 - - - no_errors AC007743.1 Clone_based_vega_gene LOC100132891 100132891 genome.wustl.edu 37 8 72965869 72965869 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 72965869 72965869 C A SNP LOC100132891 ENST00000457356 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene LOC100286922 100286922 genome.wustl.edu 37 2 234663465 234663465 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 234663465 234663465 C G SNP LOC100286922 ENST00000450901 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC114812.5 Clone_based_vega_gene LOC100499183 100499183 genome.wustl.edu 37 8 104258641 104258641 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 104258641 104258641 G A SNP LOC100499183 ENST00000499522 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-318M2.2 Clone_based_vega_gene LOC100506127 100506127 genome.wustl.edu 37 11 76093214 76093214 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 76093214 76093214 G A SNP LOC100506127 ENST00000529331 human ensembl 70_37 +1 putative missense c.342 p.M114I 0.998 NULL superfamily_Homeodomain-like - no_errors RP11-111M22.2 Clone_based_vega_gene LOC100507377 100507377 genome.wustl.edu 37 12 74679618 74679618 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 74679618 74679618 G C SNP LOC100507377 ENST00000551210 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-81H3.2 Clone_based_vega_gene LOC101060360 101060360 genome.wustl.edu 37 16 11554965 11554965 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11554965 11554965 C G SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known missense c.201 p.E67D 0.998 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene LOC101060424 101060424 genome.wustl.edu 37 16 22558204 22558204 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 22558204 22558204 G C SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-368J21.3 Clone_based_vega_gene LOC101060424 101060424 genome.wustl.edu 37 16 22558354 22558354 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 22558354 22558354 G C SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-368J21.3 Clone_based_vega_gene LOC101060455 101060455 genome.wustl.edu 37 16 30346634 30346634 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30346634 30346634 G A SNP LOC101060455 ENST00000411546 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors RP11-347C12.2 Clone_based_vega_gene LOC101060590 101060590 genome.wustl.edu 37 1 148951275 148951275 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 148951275 148951275 G A SNP LOC101060590 ENST00000452399 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-14N7.2 Clone_based_vega_gene LOC283335 283335 genome.wustl.edu 37 12 53439202 53439202 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53439202 53439202 C T SNP LOC283335 ENST00000546793 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-983P16.4 Clone_based_vega_gene LOC285441 285441 genome.wustl.edu 37 4 187209599 187209599 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 187209599 187209599 C G SNP LOC285441 ENST00000505103 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-215A19.1 Clone_based_vega_gene LOC339524 339524 genome.wustl.edu 37 1 87598075 87598075 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 87598075 87598075 C T SNP LOC339524 ENST00000467438 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene LOC344967 344967 genome.wustl.edu 37 4 40045511 40045511 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 40045511 40045511 C G SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-333E13.4 Clone_based_vega_gene LOC389634 389634 genome.wustl.edu 37 12 8543454 8543454 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 8543454 8543454 G A SNP LOC389634 ENST00000536864 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-90D4.2 Clone_based_vega_gene LOC728208 728208 genome.wustl.edu 37 2 241925417 241925417 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 241925417 241925417 C G SNP LOC728208 ENST00000425110 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC104809.2 Clone_based_vega_gene LOC729224 729224 genome.wustl.edu 37 2 202979179 202979179 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 202979179 202979179 G A SNP LOC729224 ENST00000409819 human ensembl 70_37 -1 known rna NULL NULL 0.294 - - - no_errors AC079354.3 Clone_based_vega_gene LONP2 83752 genome.wustl.edu 37 16 48278451 48278451 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 48278451 48278451 C G SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known missense c.152 p.S51W 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,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 LOXHD1 125336 genome.wustl.edu 37 18 44126883 44126883 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 44126883 44126883 G C SNP LOXHD1 ENST00000536736 human ensembl 70_37 -1 known silent c.3489 p.L1163 0.095 NULL pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC LPA 4018 genome.wustl.edu 37 6 161026196 161026196 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 161026196 161026196 C T SNP LPA ENST00000316300 human ensembl 70_37 -1 known missense c.2827 p.G943R 0.017 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors LPA HGNC LPCAT2 54947 genome.wustl.edu 37 16 55584987 55584987 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 55584987 55584987 G C SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known missense c.1188 p.L396F 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC LPP 4026 genome.wustl.edu 37 3 188592179 188592179 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 188592179 188592179 G A SNP LPP ENST00000312675 human ensembl 70_37 +1 known missense c.1751 p.C584Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC LPPR3 79948 genome.wustl.edu 37 19 814735 814735 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 814735 814735 G C SNP LPPR3 ENST00000359894 human ensembl 70_37 -1 known missense c.614 p.S205C 0.998 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_genename LPPR3 79948 genome.wustl.edu 37 19 815241 815241 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 815241 815241 G C SNP LPPR3 ENST00000359894 human ensembl 70_37 -1 known missense c.348 p.I116M 0.998 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_genename LRCH1 23143 genome.wustl.edu 37 13 47255939 47255939 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 47255939 47255939 G A SNP LRCH1 ENST00000389798 human ensembl 70_37 +1 known missense c.643 p.E215K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC LRCH3 84859 genome.wustl.edu 37 3 197574839 197574839 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197574839 197574839 G C SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.1477 p.E493Q 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC LRIF1 55791 genome.wustl.edu 37 1 111494681 111494681 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 111494681 111494681 C G SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.825 p.E275D 0.972 NULL NULL - no_errors LRIF1 HGNC LRIG2 9860 genome.wustl.edu 37 1 113616103 113616103 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 113616103 113616103 C T SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known silent c.75 p.L25 0.002 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC LRIT2 340745 genome.wustl.edu 37 10 85984189 85984189 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 85984189 85984189 G A SNP LRIT2 ENST00000538192 human ensembl 70_37 -1 known silent c.792 p.I264 0.052 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC LRMP 4033 genome.wustl.edu 37 12 25185115 25185115 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 25185115 25185115 G A SNP LRMP ENST00000557270 human ensembl 70_37 +1 known rna NULL NULL 0.164 - - - no_errors LRMP HGNC LRP1 4035 genome.wustl.edu 37 12 57538819 57538819 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57538819 57538819 C T SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known silent c.513 p.F171 0.997 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC LRP12 29967 genome.wustl.edu 37 8 105511574 105511574 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 105511574 105511574 C G SNP LRP12 ENST00000424843 human ensembl 70_37 -1 known missense c.389 p.R130T 0.886 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC LRP12 29967 genome.wustl.edu 37 8 105544149 105544149 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 105544149 105544149 G A SNP LRP12 ENST00000276654 human ensembl 70_37 -1 novel missense c.122 p.S41L 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC LRP1B 53353 genome.wustl.edu 37 2 141812716 141812716 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 141812716 141812716 G C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.1521 p.F507L 1.000 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRP2 4036 genome.wustl.edu 37 2 170131735 170131735 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170131735 170131735 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.1786 p.H596Y 0.886 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRP2 4036 genome.wustl.edu 37 2 170134304 170134304 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170134304 170134304 C G SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.1723 p.D575H 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRP2 4036 genome.wustl.edu 37 2 170136053 170136053 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170136053 170136053 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.1394 p.S465F 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRRC16B 90668 genome.wustl.edu 37 14 24526137 24526137 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24526137 24526137 C T SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known silent c.966 p.L322 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC LRRC23 10233 genome.wustl.edu 37 12 7023336 7023336 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 7023336 7023336 G A SNP LRRC23 ENST00000472633 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC23 HGNC LRRC31 79782 genome.wustl.edu 37 3 169587570 169587570 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 169587570 169587570 G A SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.26 p.S9F 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC LRRC32 2615 genome.wustl.edu 37 11 76368683 76368683 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 76368683 76368683 C G SNP LRRC32 ENST00000464145 human ensembl 70_37 -1 putative rna NULL NULL 0.918 - - - no_errors LRRC32 HGNC LRRC32 2615 genome.wustl.edu 37 11 76371754 76371754 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 76371754 76371754 C G SNP LRRC32 ENST00000260061 human ensembl 70_37 -1 known missense c.883 p.E295Q 0.707 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC LRRC37A2 474170 genome.wustl.edu 37 17 44630796 44630796 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 44630796 44630796 G A SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known missense c.4840 p.D1614N 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC LRRC37A3 374819 genome.wustl.edu 37 17 62891142 62891142 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62891142 62891142 G A SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.2234 p.S745L 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC LRRC37A4P 55073 genome.wustl.edu 37 17 43585779 43585779 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43585779 43585779 G A SNP LRRC37A4P ENST00000579913 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors LRRC37A4P HGNC LRRC59 55379 genome.wustl.edu 37 17 48474547 48474547 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48474547 48474547 G A SNP LRRC59 ENST00000576448 human ensembl 70_37 -1 putative silent c.132 p.G44 0.917 NULL NULL - no_errors LRRC59 HGNC LRRC69 100130742 genome.wustl.edu 37 8 92145429 92145429 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 92145429 92145429 C T SNP LRRC69 ENST00000448384 human ensembl 70_37 +1 novel nonsense c.475 p.Q159* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC69 HGNC LRRFIP1 9208 genome.wustl.edu 37 2 238659879 238659879 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238659879 238659879 G C SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known missense c.448 p.E150Q 1.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC LRRFIP1 9208 genome.wustl.edu 37 2 238671302 238671302 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238671302 238671302 G C SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known missense c.946 p.E316Q 0.956 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC LRRK2 120892 genome.wustl.edu 37 12 40671955 40671955 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 40671955 40671955 G A SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known silent c.2133 p.V711 0.009 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC LRRTM2 26045 genome.wustl.edu 37 5 138210089 138210089 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 138210089 138210089 G C SNP LRRTM2 ENST00000274711 human ensembl 70_37 -1 known nonsense c.161 p.S54* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC LTBP1 4052 genome.wustl.edu 37 2 33534509 33534509 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 33534509 33534509 G A SNP LTBP1 ENST00000354476 human ensembl 70_37 +1 known missense c.3493 p.E1165K 0.992 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC LUC7L3 51747 genome.wustl.edu 37 17 48822088 48822088 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48822088 48822088 G A SNP LUC7L3 ENST00000240304 human ensembl 70_37 +1 known missense c.607 p.D203N 1.000 pfam_LUC7-rel pfam_LUC7-rel - no_errors LUC7L3 HGNC LY75 4065 genome.wustl.edu 37 2 160755557 160755557 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 160755557 160755557 G A SNP LY75 ENST00000554112 human ensembl 70_37 -1 known silent c.108 p.F36 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC LZTR1 8216 genome.wustl.edu 37 22 21336750 21336750 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21336750 21336750 C G SNP LZTR1 ENST00000215739 human ensembl 70_37 +1 known missense c.90 p.F30L 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC MACF1 23499 genome.wustl.edu 37 1 39776539 39776539 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 39776539 39776539 C T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.3152 p.S1051L 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MACF1 23499 genome.wustl.edu 37 1 39952335 39952335 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 39952335 39952335 G A SNP MACF1 ENST00000497807 human ensembl 70_37 +1 known rna NULL NULL 0.934 - - - no_errors MACF1 HGNC MADD 8567 genome.wustl.edu 37 11 47297526 47297526 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 47297526 47297526 G C SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.736 p.E246Q 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC MAGEC1 9947 genome.wustl.edu 37 X 140994802 140994802 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 140994802 140994802 G C SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.1612 p.E538Q 0.955 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAGEF1 64110 genome.wustl.edu 37 3 184429175 184429175 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184429175 184429175 C T SNP MAGEF1 ENST00000317897 human ensembl 70_37 -1 known silent c.435 p.L145 0.063 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEF1 HGNC MAGI1-IT1 151877 genome.wustl.edu 37 3 65860659 65860659 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 65860659 65860659 G A SNP MAGI1-IT1 ENST00000460754 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAGI1-IT1 HGNC MAGI3 260425 genome.wustl.edu 37 1 114165542 114165542 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 114165542 114165542 G C SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.1286 p.R429T 0.997 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC MAK16 84549 genome.wustl.edu 37 8 33346281 33346281 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 33346281 33346281 G C SNP MAK16 ENST00000360128 human ensembl 70_37 +1 known missense c.205 p.E69Q 1.000 pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC MAMDC2 256691 genome.wustl.edu 37 9 72741133 72741133 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 72741133 72741133 C G SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known silent c.702 p.L234 0.995 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC MAML2 84441 genome.wustl.edu 37 11 95724713 95724713 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 95724713 95724713 G A SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known missense c.2314 p.L772F 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC MAML3 55534 genome.wustl.edu 37 4 140811981 140811981 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 140811981 140811981 G C SNP MAML3 ENST00000509479 human ensembl 70_37 -1 known missense c.609 p.I203M 0.997 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC MAN1C1 57134 genome.wustl.edu 37 1 26098186 26098186 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 26098186 26098186 G C SNP MAN1C1 ENST00000374332 human ensembl 70_37 +1 known missense c.1180 p.E394Q 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC MAP1B 4131 genome.wustl.edu 37 5 71496106 71496106 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 71496106 71496106 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.6924 p.V2308 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP1LC3C 440738 genome.wustl.edu 37 1 242162308 242162308 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 242162308 242162308 C T SNP MAP1LC3C ENST00000357246 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3C HGNC MAP2K7 5609 genome.wustl.edu 37 19 7975365 7975365 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 7975365 7975365 G A SNP MAP2K7 ENST00000545011 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K7 HGNC MAP3K10 4294 genome.wustl.edu 37 19 40698542 40698542 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40698542 40698542 C G SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known missense c.604 p.Q202E 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135738750 135738750 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 135738750 135738750 G C SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.3561 p.I1187M 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC MAP3K4 4216 genome.wustl.edu 37 6 161532882 161532882 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 161532882 161532882 C G SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.4411 p.L1471V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC MAP3K5 4217 genome.wustl.edu 37 6 137112890 137112890 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 137112890 137112890 C G SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.406 p.D136H 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 MAP4 4134 genome.wustl.edu 37 3 47950973 47950973 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 47950973 47950973 G A SNP MAP4 ENST00000264724 human ensembl 70_37 -1 known silent c.759 p.S253 0.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC MAP4K4 9448 genome.wustl.edu 37 2 102503688 102503688 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 102503688 102503688 C G SNP MAP4K4 ENST00000324219 human ensembl 70_37 +1 known missense c.3568 p.L1190V 1.000 pfam_Citron,smart_Citron 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 MAP4K4 HGNC MAP4K5 11183 genome.wustl.edu 37 14 50895433 50895433 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50895433 50895433 G C SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known nonsense c.2273 p.S758* 1.000 pfam_Citron,smart_Citron pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC MAP4K5 11183 genome.wustl.edu 37 14 50952896 50952896 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50952896 50952896 C G SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known missense c.183 p.L61F 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_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC MAPK3 5595 genome.wustl.edu 37 16 30128563 30128563 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30128563 30128563 G C SNP MAPK3 ENST00000263025 human ensembl 70_37 -1 known missense c.819 p.I273M 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom - no_errors MAPK3 HGNC MAPK9 5601 genome.wustl.edu 37 5 179696336 179696336 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 179696336 179696336 G A SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.196 p.H66Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC MARCH10 162333 genome.wustl.edu 37 17 60799927 60799927 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 60799927 60799927 C T SNP MARCH10 ENST00000311269 human ensembl 70_37 -1 known silent c.2136 p.E712 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC MARCH6 10299 genome.wustl.edu 37 5 10394201 10394201 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 10394201 10394201 G A SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.774 p.M258I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC MARVELD2 153562 genome.wustl.edu 37 5 68728887 68728887 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 68728887 68728887 G C SNP MARVELD2 ENST00000325631 human ensembl 70_37 +1 known missense c.1470 p.M490I 1.000 pfam_Occludin_RNApol2_elong_fac_ELL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom - no_errors MARVELD2 HGNC MAST2 23139 genome.wustl.edu 37 1 46496304 46496304 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 46496304 46496304 C G SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known nonsense c.2579 p.S860* 0.999 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC MAST2 23139 genome.wustl.edu 37 1 46496373 46496373 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 46496373 46496373 C G SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known nonsense c.2648 p.S883* 0.525 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC MAST4 375449 genome.wustl.edu 37 5 66461117 66461117 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 66461117 66461117 C T SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.6119 p.A2040V 0.001 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MASTL 84930 genome.wustl.edu 37 10 27448577 27448577 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 27448577 27448577 C G SNP MASTL ENST00000375940 human ensembl 70_37 +1 known silent c.354 p.V118 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MASTL HGNC MATN2 4147 genome.wustl.edu 37 8 99030257 99030257 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 99030257 99030257 G C SNP MATN2 ENST00000254898 human ensembl 70_37 +1 known missense c.1732 p.E578Q 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC MATR3 9782 genome.wustl.edu 37 5 138643658 138643658 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 138643658 138643658 G C SNP MATR3 ENST00000361059 human ensembl 70_37 +1 known missense c.554 p.R185T 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC MB21D1 115004 genome.wustl.edu 37 6 74135210 74135210 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 74135210 74135210 G A SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known missense c.1309 p.H437Y 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC MB21D1 115004 genome.wustl.edu 37 6 74135218 74135218 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 74135218 74135218 G C SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known missense c.1301 p.S434C 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC MB21D2 151963 genome.wustl.edu 37 3 192635560 192635560 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 192635560 192635560 C T SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.70 p.E24K 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC MBD5 55777 genome.wustl.edu 37 2 149241014 149241014 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149241014 149241014 G C SNP MBD5 ENST00000404807 human ensembl 70_37 +1 novel missense c.2854 p.E952Q 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC MBD6 114785 genome.wustl.edu 37 12 57919472 57919472 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57919472 57919472 G A SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.721 p.D241N 0.998 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MBD6 114785 genome.wustl.edu 37 12 57919806 57919806 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57919806 57919806 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known nonsense c.1055 p.S352* 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MBD6 114785 genome.wustl.edu 37 12 57919872 57919872 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57919872 57919872 G A SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1121 p.R374Q 0.960 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MCCD1 401250 genome.wustl.edu 37 6 31496834 31496834 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31496834 31496834 C T SNP MCCD1 ENST00000376191 human ensembl 70_37 +1 known missense c.43 p.R15C 0.151 NULL NULL - no_errors MCCD1 HGNC MCF2L 23263 genome.wustl.edu 37 13 113730449 113730449 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 113730449 113730449 C A SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.1649 p.S550Y 0.006 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC MCL1 4170 genome.wustl.edu 37 1 150551522 150551522 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 150551522 150551522 G C SNP MCL1 ENST00000369026 human ensembl 70_37 -1 known missense c.485 p.S162W 1.000 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam - no_errors MCL1 HGNC MCM2 4171 genome.wustl.edu 37 3 127327821 127327821 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 127327821 127327821 G A SNP MCM2 ENST00000265056 human ensembl 70_37 +1 known silent c.1383 p.V461 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC MCM4 4173 genome.wustl.edu 37 8 48880005 48880005 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 48880005 48880005 C G SNP MCM4 ENST00000262105 human ensembl 70_37 +1 known silent c.1134 p.L378 0.312 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC MCTP2 55784 genome.wustl.edu 37 15 94899419 94899419 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 94899419 94899419 C G SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known silent c.1059 p.L353 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC MDC1 9656 genome.wustl.edu 37 6 30671987 30671987 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30671987 30671987 G A SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.4973 p.S1658F 0.001 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC MDC1 9656 genome.wustl.edu 37 6 30675414 30675414 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30675414 30675414 G A SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.2942 p.S981L 0.486 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC MDC1 9656 genome.wustl.edu 37 6 30681015 30681015 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30681015 30681015 G C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known nonsense c.704 p.S235* 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC MDFIC 29969 genome.wustl.edu 37 7 114655985 114655985 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 114655985 114655985 C T SNP MDFIC ENST00000393486 human ensembl 70_37 +1 known missense c.737 p.S246L 1.000 NULL NULL - no_errors MDFIC HGNC MED13 9969 genome.wustl.edu 37 17 60040170 60040170 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 60040170 60040170 G A SNP MED13 ENST00000397786 human ensembl 70_37 -1 known silent c.5007 p.C1669 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MED13 9969 genome.wustl.edu 37 17 60040171 60040171 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 60040171 60040171 C A SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5006 p.C1669F 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MED23 9439 genome.wustl.edu 37 6 131919782 131919782 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 131919782 131919782 G A SNP MED23 ENST00000368058 human ensembl 70_37 -1 known silent c.2358 p.F786 0.974 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC MED24 9862 genome.wustl.edu 37 17 38179451 38179451 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38179451 38179451 G C SNP MED24 ENST00000394128 human ensembl 70_37 -1 known missense c.2183 p.S728C 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC MED29 55588 genome.wustl.edu 37 19 39882224 39882224 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39882224 39882224 C G SNP MED29 ENST00000315588 human ensembl 70_37 +1 known missense c.225 p.F75L 1.000 pfam_Mediator_Med29_met pfam_Mediator_Med29_met - no_errors MED29 HGNC MED30 90390 genome.wustl.edu 37 8 118533247 118533247 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 118533247 118533247 C G SNP MED30 ENST00000297347 human ensembl 70_37 +1 known missense c.132 p.I44M 1.000 pfam_Mediator_Med30_met pfam_Mediator_Med30_met - no_errors MED30 HGNC MED6 10001 genome.wustl.edu 37 14 71051553 71051553 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 71051553 71051553 C T SNP MED6 ENST00000256379 human ensembl 70_37 -1 known missense c.718 p.E240K 1.000 pirsf_Mediator_Med6_met/pln pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln - no_errors MED6 HGNC MED9 55090 genome.wustl.edu 37 17 17380526 17380526 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 17380526 17380526 G C SNP MED9 ENST00000268711 human ensembl 70_37 +1 known silent c.171 p.A57 0.976 NULL pfam_Mediator_Med9 - no_errors MED9 HGNC MEFV 4210 genome.wustl.edu 37 16 3297155 3297155 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3297155 3297155 G A SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.1448 p.S483L 0.505 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC MEIS3 56917 genome.wustl.edu 37 19 47910702 47910702 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 47910702 47910702 G A SNP MEIS3 ENST00000559524 human ensembl 70_37 -1 known missense c.980 p.S327F 0.944 smart_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS3 HGNC MESDC1 59274 genome.wustl.edu 37 15 81295598 81295598 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 81295598 81295598 C T SNP MESDC1 ENST00000267984 human ensembl 70_37 +1 known missense c.986 p.S329L 1.000 NULL NULL - no_errors MESDC1 HGNC MET 4233 genome.wustl.edu 37 7 116339698 116339698 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 116339698 116339698 C G SNP MET ENST00000318493 human ensembl 70_37 +1 known missense c.560 p.S187C 0.558 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MET HGNC METTL12 751071 genome.wustl.edu 37 11 62434026 62434026 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62434026 62434026 C T SNP METTL12 ENST00000532971 human ensembl 70_37 +1 known missense c.226 p.P76S 0.004 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC METTL12 751071 genome.wustl.edu 37 11 62434345 62434345 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62434345 62434345 C G SNP METTL12 ENST00000532971 human ensembl 70_37 +1 known nonsense c.545 p.S182* 0.598 pfam_Methyltransf_11 pfam_Methyltransf_11 - no_errors METTL12 HGNC METTL12 751071 genome.wustl.edu 37 11 62434438 62434438 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62434438 62434438 C T SNP METTL12 ENST00000532971 human ensembl 70_37 +1 known missense c.638 p.S213F 0.007 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC METTL16 79066 genome.wustl.edu 37 17 2381091 2381091 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 2381091 2381091 C G SNP METTL16 ENST00000263092 human ensembl 70_37 -1 known missense c.217 p.E73Q 1.000 pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC MFAP1 4236 genome.wustl.edu 37 15 44097317 44097317 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44097317 44097317 G C SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.1295 p.S432C 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC MFSD2A 84879 genome.wustl.edu 37 1 40433396 40433396 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 40433396 40433396 G A SNP MFSD2A ENST00000459917 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MFSD2A HGNC MGA 23269 genome.wustl.edu 37 15 41988923 41988923 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41988923 41988923 C T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1715 p.S572L 0.002 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MGC21881 0 genome.wustl.edu 37 9 66553844 66553844 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 66553844 66553844 C T SNP MGC21881 ENST00000305709 human ensembl 70_37 +1 known rna NULL NULL 0.096 - - - no_errors RP11-262H14.4 Clone_based_vega_gene MICAL3 57553 genome.wustl.edu 37 22 18378151 18378151 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 18378151 18378151 G A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known nonsense c.1348 p.Q450* 1.000 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC MICAL3 57553 genome.wustl.edu 37 22 18379666 18379666 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 18379666 18379666 C G SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known missense c.1030 p.D344H 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC MID1IP1 58526 genome.wustl.edu 37 X 38664284 38664284 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 38664284 38664284 G A SNP MID1IP1 ENST00000336949 human ensembl 70_37 +1 known missense c.85 p.D29N 1.000 pfam_Spot_14 pfam_Spot_14 - no_errors MID1IP1 HGNC MIIP 60672 genome.wustl.edu 37 1 12089808 12089808 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 12089808 12089808 C T SNP MIIP ENST00000466860 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIIP HGNC MINOS1 440574 genome.wustl.edu 37 1 19923511 19923511 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 19923511 19923511 G A SNP MINOS1 ENST00000462646 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MINOS1 HGNC MINOS1P1 100462953 genome.wustl.edu 37 13 33070650 33070650 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 33070650 33070650 G A SNP MINOS1P1 ENST00000450112 human ensembl 70_37 -1 known rna NULL NULL 0.284 - - - no_errors MINOS1P1 HGNC MIR124-3 406909 genome.wustl.edu 37 20 61809863 61809863 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 61809863 61809863 C T SNP MIR124-3 ENST00000384866 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-3 HGNC MIR202 574448 genome.wustl.edu 37 10 135061019 135061019 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 135061019 135061019 G A SNP MIR202 ENST00000362219 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR202 HGNC MIR377 494326 genome.wustl.edu 37 14 101528409 101528409 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101528409 101528409 G A SNP MIR377 ENST00000362145 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR377 HGNC MIR4313 100423035 genome.wustl.edu 37 15 76054601 76054601 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 76054601 76054601 C T SNP MIR4313 ENST00000561777 human ensembl 70_37 -1 known rna NULL NULL 0.059 - - - no_errors MIR4313 HGNC MIR500B 100422911 genome.wustl.edu 37 X 49775347 49775347 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 49775347 49775347 C T SNP MIR500B ENST00000458843 human ensembl 70_37 +1 known rna NULL NULL 0.215 - - - no_errors MIR500B HGNC MIR571 693156 genome.wustl.edu 37 4 343955 343955 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 343955 343955 G C SNP MIR571 ENST00000384910 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors MIR571 HGNC MKI67IP 84365 genome.wustl.edu 37 2 122493260 122493260 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 122493260 122493260 C A SNP MKI67IP ENST00000285814 human ensembl 70_37 -1 known nonsense c.172 p.E58* 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC MKNK2 2872 genome.wustl.edu 37 19 2042432 2042432 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2042432 2042432 G C SNP MKNK2 ENST00000250896 human ensembl 70_37 -1 known silent c.744 p.L248 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK2 HGNC MKNK2 2872 genome.wustl.edu 37 19 2042450 2042450 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2042450 2042450 G C SNP MKNK2 ENST00000250896 human ensembl 70_37 -1 known missense c.726 p.I242M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK2 HGNC MKX 283078 genome.wustl.edu 37 10 28023530 28023530 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 28023530 28023530 C T SNP MKX ENST00000375790 human ensembl 70_37 -1 known silent c.693 p.L231 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MKX HGNC MLIP 90523 genome.wustl.edu 37 6 54095557 54095557 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 54095557 54095557 C T SNP MLIP ENST00000274897 human ensembl 70_37 +1 known nonsense c.1159 p.Q387* 1.000 NULL NULL - no_errors MLIP HGNC KMT2A 4297 genome.wustl.edu 37 11 118370615 118370615 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118370615 118370615 C T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.6136 p.P2046S 1.000 pfam_FYrich_N,smart_FYrich_N,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC KMT2A 4297 genome.wustl.edu 37 11 118375583 118375583 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118375583 118375583 G A SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.8967 p.M2989I 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC KMT2D 8085 genome.wustl.edu 37 12 49418679 49418679 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49418679 49418679 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.15835 p.D5279Y 0.998 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151860765 151860765 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 151860765 151860765 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.9897 p.M3299I 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2B 9757 genome.wustl.edu 37 19 36229363 36229363 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36229363 36229363 G C SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.8053 p.E2685Q 1.000 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename MLLT4 4301 genome.wustl.edu 37 6 168272989 168272989 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 168272989 168272989 G A SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known silent c.510 p.K170 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC MLLT4 4301 genome.wustl.edu 37 6 168349156 168349156 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 168349156 168349156 C G SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.3808 p.Q1270E 0.998 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC MLPH 79083 genome.wustl.edu 37 2 238436082 238436082 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238436082 238436082 G C SNP MLPH ENST00000264605 human ensembl 70_37 +1 known missense c.943 p.D315H 0.464 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC MLXIPL 51085 genome.wustl.edu 37 7 73008611 73008611 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 73008611 73008611 G C SNP MLXIPL ENST00000313375 human ensembl 70_37 -1 known silent c.2433 p.L811 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIPL HGNC MMD2 221938 genome.wustl.edu 37 7 4959870 4959870 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 4959870 4959870 G T SNP MMD2 ENST00000404774 human ensembl 70_37 -1 known silent c.222 p.L74 0.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC MMP19 4327 genome.wustl.edu 37 12 56230828 56230828 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56230828 56230828 C G SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.1519 p.E507Q 0.015 NULL pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP19 HGNC MMP19 4327 genome.wustl.edu 37 12 56233334 56233334 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56233334 56233334 G C SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.712 p.R238G 0.825 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP19 HGNC MMP20 9313 genome.wustl.edu 37 11 102464305 102464305 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 102464305 102464305 C G SNP MMP20 ENST00000260228 human ensembl 70_37 -1 known missense c.1112 p.R371T 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC MMP26 56547 genome.wustl.edu 37 11 5012686 5012686 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5012686 5012686 C G SNP MMP26 ENST00000300762 human ensembl 70_37 +1 known silent c.555 p.V185 0.209 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin - no_errors MMP26 HGNC MMRN1 22915 genome.wustl.edu 37 4 90857754 90857754 + Missense_Mutation SNP A A T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 90857754 90857754 A T SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known missense c.2923 p.T975S 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC MMRN1 22915 genome.wustl.edu 37 4 90857906 90857906 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 90857906 90857906 G C SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known silent c.3075 p.L1025 0.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC MN1 4330 genome.wustl.edu 37 22 28193385 28193385 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28193385 28193385 C T SNP MN1 ENST00000302326 human ensembl 70_37 -1 known silent c.3147 p.V1049 1.000 NULL NULL - no_errors MN1 HGNC MN1 4330 genome.wustl.edu 37 22 28193390 28193390 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28193390 28193390 C T SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.3142 p.E1048K 1.000 NULL NULL - no_errors MN1 HGNC MN1 4330 genome.wustl.edu 37 22 28193687 28193687 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28193687 28193687 C T SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.2845 p.D949N 1.000 NULL NULL - no_errors MN1 HGNC MN1 4330 genome.wustl.edu 37 22 28195777 28195777 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28195777 28195777 G C SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.755 p.S252C 1.000 NULL NULL - no_errors MN1 HGNC MOB3A 126308 genome.wustl.edu 37 19 2073318 2073318 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2073318 2073318 G A SNP MOB3A ENST00000592143 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MOB3A HGNC MOGAT2 80168 genome.wustl.edu 37 11 75439952 75439952 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 75439952 75439952 C G SNP MOGAT2 ENST00000198801 human ensembl 70_37 +1 known missense c.768 p.I256M 0.965 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC MORF4L1 10933 genome.wustl.edu 37 15 79187165 79187165 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 79187165 79187165 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known missense c.923 p.R308Q 1.000 pfam_MRG_dom,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC MOV10 4343 genome.wustl.edu 37 1 113240659 113240659 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 113240659 113240659 G A SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.2242 p.E748K 0.851 NULL NULL - no_errors MOV10 HGNC MPP2 4355 genome.wustl.edu 37 17 41955285 41955285 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 41955285 41955285 C G SNP MPP2 ENST00000461854 human ensembl 70_37 -1 known missense c.1621 p.D541H 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP2 HGNC MRAS 22808 genome.wustl.edu 37 3 138119446 138119446 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138119446 138119446 G C SNP MRAS ENST00000289104 human ensembl 70_37 +1 known missense c.518 p.R173T 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,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 MRAS HGNC MRPL10 124995 genome.wustl.edu 37 17 45908804 45908804 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 45908804 45908804 G A SNP MRPL10 ENST00000421763 human ensembl 70_37 -1 known missense c.74 p.S25L 0.005 NULL NULL - no_errors MRPL10 HGNC MRPL41 64975 genome.wustl.edu 37 9 140446917 140446917 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140446917 140446917 C T SNP MRPL41 ENST00000371443 human ensembl 70_37 +1 known silent c.384 p.F128 1.000 NULL pfam_Ribosomal_L27/L41_mit - no_errors MRPL41 HGNC MRPL46 26589 genome.wustl.edu 37 15 89010588 89010588 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 89010588 89010588 C T SNP MRPL46 ENST00000312475 human ensembl 70_37 -1 known silent c.21 p.R7 0.000 NULL pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like - no_errors MRPL46 HGNC MRPL50 54534 genome.wustl.edu 37 9 104152783 104152783 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 104152783 104152783 G A SNP MRPL50 ENST00000374865 human ensembl 70_37 -1 known silent c.442 p.L148 0.911 pfam_Ribosomal_L50_mt pfam_Ribosomal_L50_mt - no_errors MRPL50 HGNC MRPS27 23107 genome.wustl.edu 37 5 71521910 71521910 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 71521910 71521910 C G SNP MRPS27 ENST00000513900 human ensembl 70_37 -1 known missense c.853 p.E285Q 0.368 pfam_Ribosomal_S27_mit pfam_Ribosomal_S27_mit - no_errors MRPS27 HGNC MRPS28 28957 genome.wustl.edu 37 8 80942405 80942405 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 80942405 80942405 G A SNP MRPS28 ENST00000276585 human ensembl 70_37 -1 known missense c.79 p.R27W 0.489 NULL pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold-like - no_errors MRPS28 HGNC MRVI1 10335 genome.wustl.edu 37 11 10628291 10628291 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 10628291 10628291 C G SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.1573 p.E525Q 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC MSH5 4439 genome.wustl.edu 37 6 31730269 31730269 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31730269 31730269 G C SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known missense c.2517 p.M839I 1.000 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC MSL2 55167 genome.wustl.edu 37 3 135870318 135870318 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 135870318 135870318 G C SNP MSL2 ENST00000309993 human ensembl 70_37 -1 known missense c.1405 p.Q469E 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC MSLN 10232 genome.wustl.edu 37 16 814672 814672 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 814672 814672 C G SNP MSLN ENST00000382862 human ensembl 70_37 +1 known missense c.326 p.S109C 0.021 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC MST1 4485 genome.wustl.edu 37 3 49724227 49724228 + Frame_Shift_Ins INS - - C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49724227 49724228 - C INS MST1 ENST00000449682 human ensembl 70_37 -1 known frame_shift_ins c.737_736 p.D246fs 1.000:0.998 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC MT-ATP6 4508 genome.wustl.edu 37 MT 9055 9055 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 MT 9055 9055 G A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.529 p.A177T NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13866 13866 + Missense_Mutation SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 MT 13866 13866 A C SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1530 p.K510N NULL pfam_NADH_DH_su5_C 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 MTA2 9219 genome.wustl.edu 37 11 62363281 62363281 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62363281 62363281 C G SNP MTA2 ENST00000278823 human ensembl 70_37 -1 known missense c.1197 p.K399N 1.000 pfam_Znf_GATA,smart_Znf_GATA pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC MTDH 92140 genome.wustl.edu 37 8 98699729 98699729 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 98699729 98699729 C G SNP MTDH ENST00000336273 human ensembl 70_37 +1 known missense c.641 p.S214C 1.000 NULL NULL - no_errors MTDH HGNC MTHFD2 10797 genome.wustl.edu 37 2 74425838 74425838 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 74425838 74425838 C G SNP MTHFD2 ENST00000394053 human ensembl 70_37 +1 known missense c.70 p.R24G 0.000 NULL pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC MTMR4 9110 genome.wustl.edu 37 17 56572509 56572509 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56572509 56572509 C G SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known silent c.2994 p.L998 0.993 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC MTOR 2475 genome.wustl.edu 37 1 11182125 11182125 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11182125 11182125 G A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6721 p.P2241S 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTOR 2475 genome.wustl.edu 37 1 11182129 11182129 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11182129 11182129 C A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6717 p.W2239C 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTOR 2475 genome.wustl.edu 37 1 11184573 11184573 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11184573 11184573 G A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6644 p.S2215F 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTOR 2475 genome.wustl.edu 37 1 11184661 11184661 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11184661 11184661 G C SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6556 p.L2186V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTOR 2475 genome.wustl.edu 37 1 11303244 11303244 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11303244 11303244 C G SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.1339 p.E447Q 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTUS2 23281 genome.wustl.edu 37 13 29600683 29600683 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 29600683 29600683 G C SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.1878 p.E626D 0.694 NULL NULL - no_errors MTUS2 HGNC MUC12 10071 genome.wustl.edu 37 7 100636087 100636087 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100636087 100636087 C G SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known nonsense c.2672 p.S891* 0.284 NULL pfam_SEA - no_errors MUC12 HGNC MUC16 94025 genome.wustl.edu 37 19 9011002 9011002 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 9011002 9011002 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.38916 p.F12972 0.856 smart_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC17 140453 genome.wustl.edu 37 7 100675173 100675173 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100675173 100675173 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.476 p.S159* 0.006 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC17 140453 genome.wustl.edu 37 7 100679611 100679611 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100679611 100679611 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.4914 p.V1638 0.009 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC17 140453 genome.wustl.edu 37 7 100682996 100682996 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100682996 100682996 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.8299 p.E2767Q 0.011 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC2 4583 genome.wustl.edu 37 11 1095202 1095202 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1095202 1095202 G C SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known missense c.6022 p.E2008Q 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MUC20 200958 genome.wustl.edu 37 3 195453117 195453117 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195453117 195453117 G T SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1643 p.G548V 0.006 NULL NULL - no_errors MUC20 HGNC MUC4 4585 genome.wustl.edu 37 3 195509548 195509548 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509548 195509548 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.8903 p.S2968* 0.723 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 MUC4 4585 genome.wustl.edu 37 3 195509644 195509644 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509644 195509644 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8807 p.S2936L 0.211 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 MUC4 4585 genome.wustl.edu 37 3 195509762 195509762 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509762 195509762 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8689 p.L2897F 0.199 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 MUC4 4585 genome.wustl.edu 37 3 195509920 195509920 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509920 195509920 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8531 p.G2844D 0.061 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 MUC4 4585 genome.wustl.edu 37 3 195510290 195510290 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195510290 195510290 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8161 p.L2721F 0.001 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 MUC4 4585 genome.wustl.edu 37 3 195510292 195510292 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195510292 195510292 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8159 p.S2720F 0.008 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 MUC4 4585 genome.wustl.edu 37 3 195510796 195510796 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195510796 195510796 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7655 p.S2552L 0.016 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 MUC4 4585 genome.wustl.edu 37 3 195513554 195513554 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195513554 195513554 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4897 p.L1633V 0.001 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 MUC6 4588 genome.wustl.edu 37 11 1031828 1031828 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1031828 1031828 G C SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known nonsense c.341 p.S114* 0.910 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC MUC7 4589 genome.wustl.edu 37 4 71347022 71347022 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 71347022 71347022 G A SNP MUC7 ENST00000304887 human ensembl 70_37 +1 known silent c.561 p.E187 0.000 NULL NULL - no_errors MUC7 HGNC MVP 9961 genome.wustl.edu 37 16 29841880 29841880 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29841880 29841880 G A SNP MVP ENST00000357402 human ensembl 70_37 +1 known missense c.10 p.E4K 0.705 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC MX2 4600 genome.wustl.edu 37 21 42762503 42762503 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 42762503 42762503 C T SNP MX2 ENST00000330714 human ensembl 70_37 +1 known silent c.744 p.L248 0.998 pfam_Dynamin_GTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX2 HGNC MXRA5 25878 genome.wustl.edu 37 X 3239349 3239349 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 3239349 3239349 G T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known silent c.4377 p.T1459 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MXRA5 25878 genome.wustl.edu 37 X 3241581 3241581 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 3241581 3241581 C T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known silent c.2145 p.L715 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYB 4602 genome.wustl.edu 37 6 135539381 135539382 + RNA INS - - T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 135539381 135539382 - T INS MYB ENST00000531845 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.998 - - - no_errors MYB HGNC MYBL2 4605 genome.wustl.edu 37 20 42331337 42331337 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 42331337 42331337 G A SNP MYBL2 ENST00000217026 human ensembl 70_37 +1 known missense c.1159 p.G387S 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC MYBL2 4605 genome.wustl.edu 37 20 42331338 42331338 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 42331338 42331338 G A SNP MYBL2 ENST00000217026 human ensembl 70_37 +1 known missense c.1160 p.G387D 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC MYC 4609 genome.wustl.edu 37 8 128752825 128752825 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 128752825 128752825 C T SNP MYC ENST00000377970 human ensembl 70_37 +1 known missense c.986 p.S329F 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC MYCBP2 23077 genome.wustl.edu 37 13 77640190 77640190 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 77640190 77640190 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.12489 p.M4163I 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYH10 4628 genome.wustl.edu 37 17 8379172 8379172 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8379172 8379172 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.5944 p.E1982K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH10 4628 genome.wustl.edu 37 17 8390882 8390882 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8390882 8390882 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.4885 p.E1629K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH10 4628 genome.wustl.edu 37 17 8424545 8424545 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8424545 8424545 G A SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.1986 p.S662 0.029 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH11 4629 genome.wustl.edu 37 16 15814867 15814867 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 15814867 15814867 C G SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known missense c.4641 p.Q1547H 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC MYH15 22989 genome.wustl.edu 37 3 108107819 108107819 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 108107819 108107819 G C SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.5593 p.Q1865E 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH3 4621 genome.wustl.edu 37 17 10536037 10536037 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 10536037 10536037 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.4712 p.S1571L 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC MYH7 4625 genome.wustl.edu 37 14 23884898 23884898 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 23884898 23884898 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.5097 p.R1699 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYL3 4634 genome.wustl.edu 37 3 46900986 46900986 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 46900986 46900986 G A SNP MYL3 ENST00000292327 human ensembl 70_37 -1 known missense c.460 p.R154C 1.000 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors MYL3 HGNC MYO10 4651 genome.wustl.edu 37 5 16818160 16818160 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 16818160 16818160 G A SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known silent c.237 p.I79 0.995 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC MYO1A 4640 genome.wustl.edu 37 12 57432326 57432326 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57432326 57432326 G A SNP MYO1A ENST00000300119 human ensembl 70_37 -1 known missense c.1630 p.R544W 0.447 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC MYO1D 4642 genome.wustl.edu 37 17 30981585 30981585 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 30981585 30981585 G C SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known silent c.2400 p.V800 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC MYO1E 4643 genome.wustl.edu 37 15 59553670 59553670 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 59553670 59553670 G C SNP MYO1E ENST00000288235 human ensembl 70_37 -1 known missense c.186 p.F62L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC MYO5B 4645 genome.wustl.edu 37 18 47463690 47463690 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 47463690 47463690 C G SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known silent c.1830 p.S610 0.173 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC MYO6 4646 genome.wustl.edu 37 6 76589832 76589832 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 76589832 76589832 G C SNP MYO6 ENST00000369981 human ensembl 70_37 +1 known missense c.2281 p.G761R 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC MYO9A 4649 genome.wustl.edu 37 15 72313282 72313282 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 72313282 72313282 C G SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.1075 p.E359Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC MYO9B 4650 genome.wustl.edu 37 19 17305930 17305930 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17305930 17305930 G C SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.3694 p.E1232Q 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC MYOC 4653 genome.wustl.edu 37 1 171605066 171605066 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 171605066 171605066 C T SNP MYOC ENST00000037502 human ensembl 70_37 -1 known silent c.1514 p.*505 0.674 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC MYOC 4653 genome.wustl.edu 37 1 171621560 171621560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 171621560 171621560 C G SNP MYOC ENST00000037502 human ensembl 70_37 -1 known missense c.192 p.Q64H 0.035 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC MYOF 26509 genome.wustl.edu 37 10 95111499 95111499 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 95111499 95111499 C G SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.3586 p.E1196Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC MYPN 84665 genome.wustl.edu 37 10 69957140 69957140 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 69957140 69957140 G C SNP MYPN ENST00000358913 human ensembl 70_37 +1 known missense c.3190 p.E1064Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC MZF1 7593 genome.wustl.edu 37 19 59074078 59074078 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 59074078 59074078 G T SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.1566 p.F522L 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 MZF1 HGNC N4BP1 9683 genome.wustl.edu 37 16 48595284 48595284 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 48595284 48595284 C T SNP N4BP1 ENST00000262384 human ensembl 70_37 -1 known missense c.1270 p.D424N 0.001 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC NAA25 80018 genome.wustl.edu 37 12 112486241 112486241 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112486241 112486241 C G SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known missense c.1735 p.E579Q 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC NAA25 80018 genome.wustl.edu 37 12 112499082 112499082 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112499082 112499082 C G SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known silent c.1260 p.L420 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC NAA25 80018 genome.wustl.edu 37 12 112530885 112530885 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112530885 112530885 C T SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known silent c.114 p.L38 1.000 pfscan_TPR-contain_dom pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC NADSYN1 55191 genome.wustl.edu 37 11 71185636 71185636 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 71185636 71185636 C G SNP NADSYN1 ENST00000528509 human ensembl 70_37 +1 known missense c.862 p.L288V 0.001 pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NADSYN1 HGNC NADSYN1 55191 genome.wustl.edu 37 11 71212397 71212397 + Nonstop_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 71212397 71212397 G C SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known nonstop c.2120 p.*707S 0.702 NULL pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC NANP 140838 genome.wustl.edu 37 20 25597140 25597140 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 25597140 25597140 G C SNP NANP ENST00000304788 human ensembl 70_37 -1 known silent c.168 p.L56 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1 - no_errors NANP HGNC NAPRT1 93100 genome.wustl.edu 37 8 144657483 144657483 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144657483 144657483 C G SNP NAPRT1 ENST00000276844 human ensembl 70_37 -1 known missense c.1324 p.E442Q 0.994 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put - no_errors NAPRT1 HGNC NARFL 64428 genome.wustl.edu 37 16 780302 780302 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 780302 780302 C G SNP NARFL ENST00000562862 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NARFL HGNC NAT16 375607 genome.wustl.edu 37 7 100816784 100816784 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100816784 100816784 C G SNP NAT16 ENST00000300303 human ensembl 70_37 -1 known silent c.330 p.V110 0.224 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC NAV1 89796 genome.wustl.edu 37 1 201779862 201779862 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201779862 201779862 C T SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known silent c.4773 p.F1591 1.000 smart_AAA+_ATPase smart_AAA+_ATPase - no_errors NAV1 HGNC NAV2 89797 genome.wustl.edu 37 11 20101720 20101720 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 20101720 20101720 G C SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.5458 p.E1820Q 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC NAV3 89795 genome.wustl.edu 37 12 78513722 78513722 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 78513722 78513722 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.3746 p.R1249Q 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NCALD 83988 genome.wustl.edu 37 8 102731624 102731624 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 102731624 102731624 C T SNP NCALD ENST00000311028 human ensembl 70_37 -1 known silent c.234 p.G78 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors NCALD HGNC NCAM1 4684 genome.wustl.edu 37 11 113143755 113143755 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 113143755 113143755 C G SNP NCAM1 ENST00000531044 human ensembl 70_37 +1 putative missense c.2173 p.Q725E 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC NCAM1 4684 genome.wustl.edu 37 11 113144009 113144009 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 113144009 113144009 C T SNP NCAM1 ENST00000528158 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors NCAM1 HGNC NCAN 1463 genome.wustl.edu 37 19 19339343 19339343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 19339343 19339343 G C SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.2914 p.E972Q 0.050 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC NCAN 1463 genome.wustl.edu 37 19 19351423 19351423 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 19351423 19351423 G C SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.3421 p.E1141Q 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC NCLN 56926 genome.wustl.edu 37 19 3186080 3186080 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3186080 3186080 C G SNP NCLN ENST00000246117 human ensembl 70_37 +1 known missense c.52 p.L18V 1.000 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC NCOA2 10499 genome.wustl.edu 37 8 71036975 71036975 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 71036975 71036975 G C SNP NCOA2 ENST00000452400 human ensembl 70_37 -1 known missense c.4042 p.Q1348E 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA2 HGNC NCOR2 9612 genome.wustl.edu 37 12 124821712 124821712 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124821712 124821712 G A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.5723 p.S1908F 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NCOR2 9612 genome.wustl.edu 37 12 124862910 124862910 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124862910 124862910 C T SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known silent c.2040 p.R680 0.974 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NCR2 9436 genome.wustl.edu 37 6 41318486 41318486 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41318486 41318486 C G SNP NCR2 ENST00000373089 human ensembl 70_37 +1 known missense c.715 p.Q239E 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC NDST3 9348 genome.wustl.edu 37 4 119026190 119026190 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 119026190 119026190 G C SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.999 p.Q333H 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC NDST4 64579 genome.wustl.edu 37 4 115749027 115749027 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 115749027 115749027 C T SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.2564 p.R855K 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC NDUFAF5 79133 genome.wustl.edu 37 20 13797029 13797029 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 13797029 13797029 G A SNP NDUFAF5 ENST00000479682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFAF5 HGNC NEB 4703 genome.wustl.edu 37 2 152375533 152375533 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152375533 152375533 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22641 p.M7547I 1.000 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 NEB 4703 genome.wustl.edu 37 2 152375560 152375560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152375560 152375560 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22614 p.K7538N 1.000 smart_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 NEB 4703 genome.wustl.edu 37 2 152472557 152472557 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152472557 152472557 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.11248 p.P3750A 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 NEB 4703 genome.wustl.edu 37 2 152499129 152499129 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152499129 152499129 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.8332 p.P2778A 1.000 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 NEB 4703 genome.wustl.edu 37 2 152544883 152544883 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152544883 152544883 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.2338 p.E780K 1.000 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 NEB 4703 genome.wustl.edu 37 2 152581994 152581994 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152581994 152581994 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.375 p.I125M 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 NEFH 4744 genome.wustl.edu 37 22 29879471 29879471 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 29879471 29879471 G C SNP NEFH ENST00000310624 human ensembl 70_37 +1 known missense c.991 p.E331Q 1.000 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC NEIL1 79661 genome.wustl.edu 37 15 75641330 75641330 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 75641330 75641330 G A SNP NEIL1 ENST00000355059 human ensembl 70_37 +1 known silent c.84 p.E28 1.000 pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC NEK10 152110 genome.wustl.edu 37 3 27343240 27343240 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 27343240 27343240 G C SNP NEK10 ENST00000341435 human ensembl 70_37 -1 known nonsense c.1115 p.S372* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC NEK4 6787 genome.wustl.edu 37 3 52799951 52799951 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52799951 52799951 G C SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.618 p.F206L 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC NEK8 284086 genome.wustl.edu 37 17 27064323 27064323 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27064323 27064323 G C SNP NEK8 ENST00000268766 human ensembl 70_37 +1 known splice_site c.619-1 e5-1 1.000 - - - no_errors NEK8 HGNC NEMF 9147 genome.wustl.edu 37 14 50287124 50287124 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50287124 50287124 C G SNP NEMF ENST00000555878 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors NEMF HGNC NEMF 9147 genome.wustl.edu 37 14 50312863 50312863 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50312863 50312863 C G SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.352 p.D118H 1.000 pfam_Fibro-bd_N pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC NES 10763 genome.wustl.edu 37 1 156640544 156640544 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156640544 156640544 C G SNP NES ENST00000368223 human ensembl 70_37 -1 known missense c.3436 p.E1146Q 0.415 NULL pfam_F - no_errors NES HGNC NES 10763 genome.wustl.edu 37 1 156642887 156642887 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156642887 156642887 C G SNP NES ENST00000368223 human ensembl 70_37 -1 known missense c.1093 p.E365Q 0.001 NULL pfam_F - no_errors NES HGNC NEU1 4758 genome.wustl.edu 37 6 31830436 31830436 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31830436 31830436 G C SNP NEU1 ENST00000375631 human ensembl 70_37 -1 known missense c.118 p.L40V 0.003 NULL superfamily_Neuraminidase - no_errors NEU1 HGNC NF1 4763 genome.wustl.edu 37 17 29652871 29652871 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29652871 29652871 G T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known silent c.4869 p.L1623 1.000 superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NFATC4 4776 genome.wustl.edu 37 14 24842959 24842959 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24842959 24842959 G A SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known missense c.1807 p.E603K 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD 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 NFATC4 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178095920 178095920 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178095920 178095920 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1411 p.E471Q 0.998 superfamily_Euk_TF_DNA-bd pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178096229 178096229 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178096229 178096229 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1102 p.D368H 1.000 superfamily_Serpin_dom pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178096533 178096533 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178096533 178096533 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.798 p.L266F 0.033 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178097980 178097980 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178097980 178097980 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.400 p.E134Q 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NFIL3 4783 genome.wustl.edu 37 9 94172030 94172030 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 94172030 94172030 G C SNP NFIL3 ENST00000297689 human ensembl 70_37 -1 known missense c.987 p.I329M 0.963 pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC NFKBIE 4794 genome.wustl.edu 37 6 44233056 44233056 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 44233056 44233056 C T SNP NFKBIE ENST00000275015 human ensembl 70_37 -1 known missense c.445 p.E149K 0.984 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 NFKBIE HGNC NFKBIZ 64332 genome.wustl.edu 37 3 101572421 101572421 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 101572421 101572421 G C SNP NFKBIZ ENST00000326172 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.980 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 NFKBIZ HGNC NHS 4810 genome.wustl.edu 37 X 17744156 17744156 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 17744156 17744156 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known nonsense c.1867 p.Q623* 1.000 NULL NULL - no_errors NHS HGNC NINL 22981 genome.wustl.edu 37 20 25443110 25443110 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 25443110 25443110 G C SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.3491 p.S1164C 0.079 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC NIPAL1 152519 genome.wustl.edu 37 4 48037752 48037752 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48037752 48037752 G C SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known missense c.796 p.E266Q 0.022 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC NIPBL 25836 genome.wustl.edu 37 5 37038789 37038789 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37038789 37038789 C G SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known silent c.6057 p.L2019 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC NIPBL 25836 genome.wustl.edu 37 5 37063934 37063934 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37063934 37063934 G C SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7903 p.E2635Q 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NISCH 11188 genome.wustl.edu 37 3 52522532 52522532 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52522532 52522532 G A SNP NISCH ENST00000345716 human ensembl 70_37 +1 known silent c.3024 p.L1008 0.984 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC NISCH 11188 genome.wustl.edu 37 3 52524734 52524734 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52524734 52524734 G A SNP NISCH ENST00000345716 human ensembl 70_37 +1 known silent c.3627 p.Q1209 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC NKAPL 222698 genome.wustl.edu 37 6 28228247 28228247 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28228247 28228247 G C SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.1098 p.K366N 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC NKAPL 222698 genome.wustl.edu 37 6 28228286 28228286 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28228286 28228286 G C SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.1137 p.K379N 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC NKX2-1 7080 genome.wustl.edu 37 14 36988461 36988461 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 36988461 36988461 G A SNP NKX2-1 ENST00000354822 human ensembl 70_37 -1 known silent c.192 p.L64 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC NKX2-6 137814 genome.wustl.edu 37 8 23563960 23563960 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 23563960 23563960 C G SNP NKX2-6 ENST00000325017 human ensembl 70_37 -1 novel missense c.152 p.R51P 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC NLN 57486 genome.wustl.edu 37 5 65084037 65084037 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 65084037 65084037 G C SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.997 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC NLRC5 84166 genome.wustl.edu 37 16 57111636 57111636 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57111636 57111636 C T SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.4925 p.S1642L 0.977 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC NLRP1 22861 genome.wustl.edu 37 17 5418805 5418805 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 5418805 5418805 G C SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.4090 p.P1364A 0.002 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP1 22861 genome.wustl.edu 37 17 5436619 5436619 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 5436619 5436619 C G SNP NLRP1 ENST00000262467 human ensembl 70_37 -1 known missense c.3138 p.K1046N 0.003 NULL pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP12 91662 genome.wustl.edu 37 19 54314501 54314501 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 54314501 54314501 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known missense c.412 p.R138W 0.794 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC NLRP2 55655 genome.wustl.edu 37 19 55508776 55508776 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55508776 55508776 C T SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known nonsense c.2971 p.Q991* 0.322 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 NLRP2 HGNC NOC2L 26155 genome.wustl.edu 37 1 894355 894355 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 894355 894355 C G SNP NOC2L ENST00000327044 human ensembl 70_37 -1 known missense c.133 p.E45Q 0.000 NULL pfam_UPF0120,superfamily_ARM-type_fold - no_errors NOC2L HGNC NOL10 79954 genome.wustl.edu 37 2 10829970 10829970 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 10829970 10829970 G A SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known silent c.18 p.L6 1.000 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC NOL3 8996 genome.wustl.edu 37 16 67207831 67207831 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67207831 67207831 G C SNP NOL3 ENST00000564053 human ensembl 70_37 +1 putative missense c.60 p.Q20H 0.000 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors NOL3 HGNC NOL8 55035 genome.wustl.edu 37 9 95077787 95077787 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 95077787 95077787 G A SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.1120 p.R374C 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC NONO 4841 genome.wustl.edu 37 X 70520933 70520933 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 70520933 70520933 G C SNP NONO ENST00000490044 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors NONO HGNC NOP14 8602 genome.wustl.edu 37 4 2951703 2951703 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2951703 2951703 C G SNP NOP14 ENST00000416614 human ensembl 70_37 -1 known missense c.1240 p.A414P 0.001 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC NOP2 4839 genome.wustl.edu 37 12 6669685 6669685 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6669685 6669685 C T SNP NOP2 ENST00000322166 human ensembl 70_37 -1 known silent c.1488 p.L496 0.997 pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC NOS2 4843 genome.wustl.edu 37 17 26108139 26108139 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 26108139 26108139 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known nonsense c.787 p.Q263* 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC NOS3 4846 genome.wustl.edu 37 7 150706116 150706116 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150706116 150706116 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known silent c.2211 p.L737 1.000 superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC NOS3 4846 genome.wustl.edu 37 7 150706129 150706129 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150706129 150706129 G T SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known nonsense c.2224 p.E742* 0.887 superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139410136 139410136 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 139410136 139410136 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1702 p.D568N 0.503 smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOVA1 4857 genome.wustl.edu 37 14 26949239 26949239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 26949239 26949239 C G SNP NOVA1 ENST00000539517 human ensembl 70_37 -1 known missense c.391 p.E131Q 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC NPHS2 7827 genome.wustl.edu 37 1 179526215 179526215 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179526215 179526215 G C SNP NPHS2 ENST00000367615 human ensembl 70_37 -1 known missense c.685 p.R229G 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC NPIPB15 440348 genome.wustl.edu 37 16 74425650 74425650 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 74425650 74425650 C T SNP NPIPL2 ENST00000429990 human ensembl 70_37 +1 known missense c.1004 p.S335L 0.119 pfam_NPIP pfam_NPIP - no_errors NPIPL2 HGNC NPR3 4883 genome.wustl.edu 37 5 32774868 32774868 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 32774868 32774868 C G SNP NPR3 ENST00000265074 human ensembl 70_37 +1 known missense c.1114 p.L372V 1.000 pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt - no_errors NPR3 HGNC NPY5R 4889 genome.wustl.edu 37 4 164272489 164272489 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 164272489 164272489 C T SNP NPY5R ENST00000338566 human ensembl 70_37 +1 known missense c.1064 p.S355F 0.973 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY5R HGNC NR1D1 9572 genome.wustl.edu 37 17 38253437 38253437 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38253437 38253437 G A SNP NR1D1 ENST00000246672 human ensembl 70_37 -1 known missense c.251 p.S84L 0.175 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC NR1I2 8856 genome.wustl.edu 37 3 119526272 119526272 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 119526272 119526272 G A SNP NR1I2 ENST00000337940 human ensembl 70_37 +1 known missense c.292 p.E98K 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I2 HGNC NR2C2 7182 genome.wustl.edu 37 3 15062306 15062306 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 15062306 15062306 C T SNP NR2C2 ENST00000323373 human ensembl 70_37 +1 known silent c.480 p.F160 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC NR2C2 7182 genome.wustl.edu 37 3 15079634 15079634 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 15079634 15079634 C G SNP NR2C2 ENST00000323373 human ensembl 70_37 +1 known silent c.1557 p.L519 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC NRTN 4902 genome.wustl.edu 37 19 5824321 5824321 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 5824321 5824321 G A SNP NRTN ENST00000303212 human ensembl 70_37 +1 known missense c.145 p.A49T 0.947 NULL pfam_TGF-b_C - no_errors NRTN HGNC NSD1 64324 genome.wustl.edu 37 5 176562465 176562465 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176562465 176562465 C G SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.361 p.P121A 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSF 4905 genome.wustl.edu 37 17 44788416 44788416 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 44788416 44788416 G A SNP NSF ENST00000398238 human ensembl 70_37 +1 known missense c.1558 p.D520N 1.000 NULL pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors NSF HGNC NSRP1 84081 genome.wustl.edu 37 17 28512600 28512600 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 28512600 28512600 G A SNP NSRP1 ENST00000247026 human ensembl 70_37 +1 known missense c.1585 p.E529K 0.914 NULL pfam_DUF2040 - no_errors NSRP1 HGNC NSUN4 387338 genome.wustl.edu 37 1 46809451 46809451 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 46809451 46809451 C T SNP NSUN4 ENST00000495427 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NSUN4 HGNC NT5DC2 64943 genome.wustl.edu 37 3 52558597 52558597 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52558597 52558597 G A SNP NT5DC2 ENST00000422318 human ensembl 70_37 -1 known silent c.1563 p.T521 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC NT5DC2 64943 genome.wustl.edu 37 3 52562533 52562533 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52562533 52562533 C T SNP NT5DC2 ENST00000422318 human ensembl 70_37 -1 known missense c.571 p.E191K 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC NT5DC4 284958 genome.wustl.edu 37 2 113480079 113480079 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113480079 113480079 G C SNP NT5DC4 ENST00000327581 human ensembl 70_37 +1 novel missense c.304 p.E102Q 0.993 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC4 HGNC NT5DC4 284958 genome.wustl.edu 37 2 113484277 113484277 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113484277 113484277 G A SNP NT5DC4 ENST00000327581 human ensembl 70_37 +1 novel missense c.1132 p.E378K 0.045 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC4 HGNC NTF4 4909 genome.wustl.edu 37 19 49565222 49565222 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 49565222 49565222 G C SNP NTF4 ENST00000301411 human ensembl 70_37 -1 known missense c.33 p.I11M 1.000 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-4 - no_errors NTF4 HGNC NTNG1 22854 genome.wustl.edu 37 1 107867344 107867344 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 107867344 107867344 C T SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known silent c.687 p.F229 0.522 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC NTRK3 4916 genome.wustl.edu 37 15 88799372 88799372 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 88799372 88799372 G C SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known missense c.13 p.L5V 1.000 prints_Tyr_kin_neurotrophic_rcpt_3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC NUBPL 80224 genome.wustl.edu 37 14 32315700 32315700 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 32315700 32315700 G C SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.717 p.M239I 1.000 pfam_ATPase-like_ParA/MinD pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC NUDCD3 23386 genome.wustl.edu 37 7 44524810 44524810 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44524810 44524810 C T SNP NUDCD3 ENST00000355451 human ensembl 70_37 -1 known missense c.266 p.R89K 0.915 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDCD3 HGNC NUDT3 11165 genome.wustl.edu 37 6 34309715 34309715 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34309715 34309715 C T SNP NUDT3 ENST00000358797 human ensembl 70_37 -1 known missense c.134 p.R45K 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC NUP153 9972 genome.wustl.edu 37 6 17669684 17669684 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 17669684 17669684 C G SNP NUP153 ENST00000537253 human ensembl 70_37 -1 known missense c.946 p.E316Q 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC NUP37 79023 genome.wustl.edu 37 12 102505983 102505983 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 102505983 102505983 G C SNP NUP37 ENST00000251074 human ensembl 70_37 -1 known missense c.184 p.Q62E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP37 HGNC NUP93 9688 genome.wustl.edu 37 16 56839461 56839461 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 56839461 56839461 G A SNP NUP93 ENST00000308159 human ensembl 70_37 +1 known missense c.406 p.E136K 0.998 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC NXPH2 11249 genome.wustl.edu 37 2 139428603 139428603 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 139428603 139428603 G C SNP NXPH2 ENST00000272641 human ensembl 70_37 -1 known missense c.684 p.F228L 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC NYNRIN 57523 genome.wustl.edu 37 14 24883998 24883998 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24883998 24883998 G A SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.3043 p.E1015K 0.233 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OAZ3 51686 genome.wustl.edu 37 1 151739351 151739351 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151739351 151739351 C T SNP OAZ3 ENST00000577465 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors OAZ3 HGNC OBP2B 29989 genome.wustl.edu 37 9 136083256 136083256 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136083256 136083256 C T SNP OBP2B ENST00000473737 human ensembl 70_37 -1 known silent c.354 p.L118 0.002 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2B HGNC OC90 729330 genome.wustl.edu 37 8 133051046 133051046 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 133051046 133051046 G C SNP OC90 ENST00000443356 human ensembl 70_37 -1 known missense c.619 p.L207V 0.002 NULL pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors OC90 HGNC ODF2 4957 genome.wustl.edu 37 9 131222883 131222883 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131222883 131222883 G A SNP ODF2 ENST00000351030 human ensembl 70_37 +1 known missense c.46 p.E16K 1.000 NULL NULL - no_errors ODF2 HGNC ODF2 4957 genome.wustl.edu 37 9 131223280 131223280 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131223280 131223280 G C SNP ODF2 ENST00000372796 human ensembl 70_37 +1 known silent c.183 p.V61 1.000 NULL NULL - no_errors ODF2 HGNC ODF2 4957 genome.wustl.edu 37 9 131223380 131223380 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131223380 131223380 G A SNP ODF2 ENST00000494663 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ODF2 HGNC ODF2L 57489 genome.wustl.edu 37 1 86822207 86822207 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 86822207 86822207 G A SNP ODF2L ENST00000317336 human ensembl 70_37 -1 known missense c.1438 p.H480Y 0.987 NULL NULL - no_errors ODF2L HGNC ODF3 113746 genome.wustl.edu 37 11 198241 198241 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 198241 198241 C G SNP ODF3 ENST00000325113 human ensembl 70_37 +1 known nonsense c.353 p.S118* 0.849 NULL pfam_SHIPPO-rpt - no_errors ODF3 HGNC ODF4 146852 genome.wustl.edu 37 17 8248714 8248714 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8248714 8248714 G C SNP ODF4 ENST00000328248 human ensembl 70_37 +1 known missense c.508 p.E170Q 0.713 NULL NULL - no_errors ODF4 HGNC OIT3 170392 genome.wustl.edu 37 10 74684129 74684129 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 74684129 74684129 C A SNP OIT3 ENST00000334011 human ensembl 70_37 +1 known missense c.1094 p.S365Y 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC OMG 4974 genome.wustl.edu 37 17 29622065 29622065 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29622065 29622065 G A SNP OMG ENST00000247271 human ensembl 70_37 -1 known missense c.1285 p.L429F 0.211 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC OPA3 80207 genome.wustl.edu 37 19 46032593 46032593 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46032593 46032593 G A SNP OPA3 ENST00000323060 human ensembl 70_37 -1 known silent c.264 p.I88 1.000 pfam_OPA3-like pfam_OPA3-like - no_errors OPA3 HGNC OPTN 10133 genome.wustl.edu 37 10 13152294 13152294 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 13152294 13152294 C G SNP OPTN ENST00000263036 human ensembl 70_37 +1 known missense c.187 p.Q63E 1.000 pfam_NEMO_N pfam_NEMO_N - no_errors OPTN HGNC OR10Z1 128368 genome.wustl.edu 37 1 158576330 158576330 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 158576330 158576330 G A SNP OR10Z1 ENST00000361284 human ensembl 70_37 +1 known silent c.102 p.L34 0.308 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC OR14C36 127066 genome.wustl.edu 37 1 248512656 248512656 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 248512656 248512656 G C SNP OR14C36 ENST00000317861 human ensembl 70_37 +1 known missense c.580 p.E194Q 0.001 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 OR14C36 HGNC OR1L1 26737 genome.wustl.edu 37 9 125424911 125424911 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 125424911 125424911 G C SNP OR1L1 ENST00000373686 human ensembl 70_37 +1 known missense c.1067 p.R356T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC OR1Q1 158131 genome.wustl.edu 37 9 125377527 125377527 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 125377527 125377527 G C SNP OR1Q1 ENST00000297913 human ensembl 70_37 +1 known missense c.511 p.D171H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC OR2A2 442361 genome.wustl.edu 37 7 143807474 143807474 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 143807474 143807474 G C SNP OR2A2 ENST00000408979 human ensembl 70_37 +1 known missense c.799 p.E267Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC OR2B3 442184 genome.wustl.edu 37 6 29054661 29054661 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29054661 29054661 C G SNP OR2B3 ENST00000377173 human ensembl 70_37 -1 known missense c.365 p.R122T 1.000 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 OR2B3 HGNC OR2T27 403239 genome.wustl.edu 37 1 248813928 248813928 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 248813928 248813928 C T SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known silent c.258 p.V86 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC OR3A3 8392 genome.wustl.edu 37 17 3324457 3324457 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 3324457 3324457 C G SNP OR3A3 ENST00000291231 human ensembl 70_37 +1 known missense c.596 p.S199C 0.877 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A3 HGNC OR4C3 256144 genome.wustl.edu 37 11 48347189 48347189 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 48347189 48347189 C G SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.697 p.L233V 0.960 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC OR4C3 256144 genome.wustl.edu 37 11 48347369 48347369 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 48347369 48347369 G C SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.877 p.D293H 0.514 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC OR4D11 219986 genome.wustl.edu 37 11 59271208 59271208 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 59271208 59271208 C T SNP OR4D11 ENST00000313253 human ensembl 70_37 +1 known missense c.160 p.R54C 0.060 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC OR4D5 219875 genome.wustl.edu 37 11 123810603 123810603 + Missense_Mutation SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 123810603 123810603 T C SNP OR4D5 ENST00000307033 human ensembl 70_37 +1 known missense c.280 p.F94L 0.977 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 OR4D5 HGNC OR4F15 390649 genome.wustl.edu 37 15 102359288 102359288 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 102359288 102359288 G A SNP OR4F15 ENST00000332238 human ensembl 70_37 +1 known missense c.899 p.R300K 0.157 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC OR4K1 79544 genome.wustl.edu 37 14 20404690 20404690 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 20404690 20404690 C T SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known silent c.865 p.L289 0.944 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC OR51S1 119692 genome.wustl.edu 37 11 4870037 4870037 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 4870037 4870037 G C SNP OR51S1 ENST00000322101 human ensembl 70_37 -1 known missense c.402 p.I134M 1.000 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 OR51S1 HGNC OR52N5 390075 genome.wustl.edu 37 11 5799825 5799825 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5799825 5799825 G A SNP OR52N5 ENST00000317093 human ensembl 70_37 -1 known missense c.40 p.H14Y 0.215 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC OR56A1 120796 genome.wustl.edu 37 11 6048725 6048725 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6048725 6048725 G C SNP OR56A1 ENST00000316650 human ensembl 70_37 -1 known silent c.210 p.L70 0.994 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 OR56A1 HGNC OR5B21 219968 genome.wustl.edu 37 11 58275441 58275441 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 58275441 58275441 G A SNP OR5B21 ENST00000360374 human ensembl 70_37 -1 known silent c.138 p.I46 0.002 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 OR5B21 HGNC OR5L1 219437 genome.wustl.edu 37 11 55579658 55579658 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 55579658 55579658 C G SNP OR5L1 ENST00000333973 human ensembl 70_37 +1 known missense c.716 p.S239C 0.859 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 OR5L1 HGNC OR5T3 390154 genome.wustl.edu 37 11 56020110 56020110 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 56020110 56020110 G C SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.435 p.L145F 0.697 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 OR5T3 HGNC OR6B1 135946 genome.wustl.edu 37 7 143701854 143701854 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 143701854 143701854 C T SNP OR6B1 ENST00000408922 human ensembl 70_37 +1 known silent c.765 p.F255 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC OR6K6 128371 genome.wustl.edu 37 1 158724728 158724728 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 158724728 158724728 C G SNP OR6K6 ENST00000368144 human ensembl 70_37 +1 known silent c.123 p.L41 0.959 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC OR8B8 26493 genome.wustl.edu 37 11 124310211 124310211 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 124310211 124310211 G C SNP OR8B8 ENST00000328064 human ensembl 70_37 -1 putative missense c.771 p.F257L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC OR8D4 338662 genome.wustl.edu 37 11 123777647 123777647 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 123777647 123777647 G A SNP OR8D4 ENST00000321355 human ensembl 70_37 +1 known missense c.509 p.G170E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC OR8I2 120586 genome.wustl.edu 37 11 55861422 55861422 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 55861422 55861422 C T SNP OR8I2 ENST00000302124 human ensembl 70_37 +1 known silent c.639 p.I213 0.006 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 OR8I2 HGNC OR9G1 390174 genome.wustl.edu 37 11 56468523 56468523 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 56468523 56468523 C T SNP OR9G1 ENST00000312153 human ensembl 70_37 +1 known silent c.660 p.I220 0.954 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 OR9G1 HGNC ORC2 4999 genome.wustl.edu 37 2 201800483 201800483 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201800483 201800483 C G SNP ORC2 ENST00000234296 human ensembl 70_37 -1 known missense c.647 p.R216T 0.049 NULL pfam_ORC2 - no_errors ORC2 HGNC ORC2 4999 genome.wustl.edu 37 2 201800579 201800579 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201800579 201800579 G C SNP ORC2 ENST00000234296 human ensembl 70_37 -1 known missense c.551 p.S184C 1.000 NULL pfam_ORC2 - no_errors ORC2 HGNC ORC5 5001 genome.wustl.edu 37 7 103767296 103767296 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 103767296 103767296 C T SNP ORC5 ENST00000297431 human ensembl 70_37 -1 known silent c.1307 p.*436 1.000 NULL NULL - no_errors ORC5 HGNC OTOP1 133060 genome.wustl.edu 37 4 4198908 4198908 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 4198908 4198908 G C SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1653 p.F551L 0.998 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC OTUD4 54726 genome.wustl.edu 37 4 146065559 146065559 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 146065559 146065559 G A SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known nonsense c.1450 p.Q484* 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC OTUD4 54726 genome.wustl.edu 37 4 146065567 146065567 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 146065567 146065567 G A SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known missense c.1442 p.S481L 0.911 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC OXSM 54995 genome.wustl.edu 37 3 25833167 25833167 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 25833167 25833167 C G SNP OXSM ENST00000280701 human ensembl 70_37 +1 known nonsense c.656 p.S219* 1.000 pfam_Ketoacyl_synth_N,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC P4HA2 8974 genome.wustl.edu 37 5 131545021 131545021 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 131545021 131545021 G C SNP P4HA2 ENST00000166534 human ensembl 70_37 -1 known missense c.713 p.P238R 0.997 pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC PADI2 11240 genome.wustl.edu 37 1 17395384 17395384 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17395384 17395384 C T SNP PADI2 ENST00000466151 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors PADI2 HGNC PADI2 11240 genome.wustl.edu 37 1 17409138 17409138 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17409138 17409138 C T SNP PADI2 ENST00000375486 human ensembl 70_37 -1 known missense c.1060 p.E354K 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC PADI2 11240 genome.wustl.edu 37 1 17409144 17409144 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17409144 17409144 C A SNP PADI2 ENST00000375486 human ensembl 70_37 -1 known nonsense c.1054 p.E352* 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC PAK2 5062 genome.wustl.edu 37 3 196528862 196528862 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196528862 196528862 C T SNP PAK2 ENST00000327134 human ensembl 70_37 +1 known silent c.252 p.I84 0.996 pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK2 HGNC PALD1 27143 genome.wustl.edu 37 10 72293705 72293705 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 72293705 72293705 G C SNP PALD1 ENST00000263563 human ensembl 70_37 +1 known missense c.898 p.D300H 0.008 smart_Tyr_Pase_cat smart_Tyr_Pase_cat - no_errors PALD1 HGNC PALM 5064 genome.wustl.edu 37 19 736029 736029 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 736029 736029 C G SNP PALM ENST00000338448 human ensembl 70_37 +1 known silent c.453 p.V151 0.046 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC PALM3 342979 genome.wustl.edu 37 19 14165969 14165969 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14165969 14165969 G C SNP PALM3 ENST00000340790 human ensembl 70_37 -1 known missense c.470 p.S157C 0.001 NULL NULL - no_errors PALM3 HGNC PAMR1 25891 genome.wustl.edu 37 11 35492237 35492237 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 35492237 35492237 C G SNP PAMR1 ENST00000278360 human ensembl 70_37 -1 known missense c.624 p.Q208H 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC PANK2 80025 genome.wustl.edu 37 20 3904080 3904080 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3904080 3904080 C T SNP PANK2 ENST00000336066 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors PANK2 HGNC PAQR9 344838 genome.wustl.edu 37 3 142681903 142681903 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142681903 142681903 G A SNP PAQR9 ENST00000340634 human ensembl 70_37 -1 known silent c.276 p.I92 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC PAQR9 344838 genome.wustl.edu 37 3 142681918 142681918 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142681918 142681918 G A SNP PAQR9 ENST00000340634 human ensembl 70_37 -1 known silent c.261 p.F87 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC PARD3 56288 genome.wustl.edu 37 10 34606252 34606252 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 34606252 34606252 C T SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.2857 p.E953K 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC PARD3B 117583 genome.wustl.edu 37 2 206023452 206023452 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 206023452 206023452 G A SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.1441 p.E481K 1.000 superfamily_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC PARP1 142 genome.wustl.edu 37 1 226589952 226589952 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 226589952 226589952 C T SNP PARP1 ENST00000366794 human ensembl 70_37 -1 known silent c.249 p.Q83 1.000 pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC PARP14 54625 genome.wustl.edu 37 3 122447317 122447317 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122447317 122447317 C G SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known nonsense c.5279 p.S1760* 0.014 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PCDH10 57575 genome.wustl.edu 37 4 134072556 134072556 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 134072556 134072556 C T SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known silent c.1261 p.L421 0.952 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC PCDH17 27253 genome.wustl.edu 37 13 58208549 58208549 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 58208549 58208549 C G SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known silent c.1869 p.L623 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCDH18 54510 genome.wustl.edu 37 4 138451743 138451743 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 138451743 138451743 C G SNP PCDH18 ENST00000344876 human ensembl 70_37 -1 known silent c.1500 p.V500 0.347 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 PCDH18 HGNC PCDH19 57526 genome.wustl.edu 37 X 99663151 99663151 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 99663151 99663151 G T SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.445 p.P149T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC PCDH20 64881 genome.wustl.edu 37 13 61986539 61986539 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 61986539 61986539 C T SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known missense c.1693 p.E565K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC PCDHA11 56138 genome.wustl.edu 37 5 140249551 140249551 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140249551 140249551 G T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known missense c.863 p.G288V 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC PCDHB10 56126 genome.wustl.edu 37 5 140573946 140573946 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140573946 140573946 C G SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known silent c.1821 p.L607 0.072 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 PCDHB10 HGNC PCDHB12 56124 genome.wustl.edu 37 5 140590708 140590708 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140590708 140590708 G A SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known silent c.2229 p.G743 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC PCDHB2 56133 genome.wustl.edu 37 5 140476557 140476557 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140476557 140476557 C T SNP PCDHB2 ENST00000194155 human ensembl 70_37 +1 known missense c.2183 p.S728L 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC PCDHB6 56130 genome.wustl.edu 37 5 140530897 140530897 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140530897 140530897 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.1059 p.L353 0.005 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC PCDHB7 56129 genome.wustl.edu 37 5 140552567 140552567 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140552567 140552567 G C SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known missense c.151 p.D51H 0.972 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC PCDHB7 56129 genome.wustl.edu 37 5 140553673 140553673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140553673 140553673 C G SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known missense c.1257 p.I419M 0.997 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 PCDHB7 HGNC PCDHGA3 56112 genome.wustl.edu 37 5 140723829 140723829 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140723829 140723829 C G SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.229 p.L77V 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC PCDHGA3 56112 genome.wustl.edu 37 5 140725574 140725574 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140725574 140725574 C T SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known silent c.1974 p.V658 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC PCDHGA3 56112 genome.wustl.edu 37 5 140725995 140725995 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140725995 140725995 G C SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.2395 p.E799Q 0.006 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC PCDHGA6 56109 genome.wustl.edu 37 5 140754711 140754711 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140754711 140754711 G A SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known missense c.1061 p.R354K 0.066 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC PCDHGA8 9708 genome.wustl.edu 37 5 140773110 140773110 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140773110 140773110 C T SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.730 p.H244Y 0.955 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC PCDHGB6 56100 genome.wustl.edu 37 5 140788169 140788169 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140788169 140788169 G C SNP PCDHGB6 ENST00000520790 human ensembl 70_37 +1 known missense c.400 p.D134H 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC PCDP1 200373 genome.wustl.edu 37 2 120414017 120414017 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120414017 120414017 G T SNP PCDP1 ENST00000602047 human ensembl 70_37 +1 known missense c.1636 p.A546S 0.993 NULL NULL - no_errors PCDP1 Uniprot_genename PCF11 51585 genome.wustl.edu 37 11 82879498 82879498 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 82879498 82879498 C T SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known silent c.2121 p.F707 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC PCLO 27445 genome.wustl.edu 37 7 82545481 82545481 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 82545481 82545481 G T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.11821 p.Q3941K 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCNP 57092 genome.wustl.edu 37 3 101298450 101298450 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 101298450 101298450 C G SNP PCNP ENST00000498274 human ensembl 70_37 +1 known missense c.82 p.L28V 1.000 NULL NULL - no_errors PCNP HGNC PCNT 5116 genome.wustl.edu 37 21 47817292 47817292 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47817292 47817292 G C SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.4330 p.E1444Q 0.997 NULL pfam_PACT_domain - no_errors PCNT HGNC PCNXL2 80003 genome.wustl.edu 37 1 233388160 233388160 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 233388160 233388160 C G SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.2068 p.E690Q 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PCNXL2 80003 genome.wustl.edu 37 1 233394536 233394536 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 233394536 233394536 G C SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.1072 p.L358V 0.947 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PCNXL4 64430 genome.wustl.edu 37 14 60581945 60581945 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 60581945 60581945 C G SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.1123 p.H375D 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC PCOLCE2 26577 genome.wustl.edu 37 3 142561848 142561848 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142561848 142561848 G A SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known missense c.491 p.S164F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC PDCD2L 84306 genome.wustl.edu 37 19 34916921 34916921 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 34916921 34916921 C G SNP PDCD2L ENST00000246535 human ensembl 70_37 +1 known missense c.973 p.L325V 1.000 pfam_PDCD2_C pfam_PDCD2_C - no_errors PDCD2L HGNC PDE1A 5136 genome.wustl.edu 37 2 183387104 183387104 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 183387104 183387104 G T SNP PDE1A ENST00000482782 human ensembl 70_37 -1 known rna NULL NULL 0.343 - - - no_errors PDE1A HGNC PDE1B 5153 genome.wustl.edu 37 12 54967164 54967164 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 54967164 54967164 G C SNP PDE1B ENST00000243052 human ensembl 70_37 +1 known missense c.862 p.D288H 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC PDE4A 5141 genome.wustl.edu 37 19 10571734 10571734 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10571734 10571734 G A SNP PDE4A ENST00000352831 human ensembl 70_37 +1 known missense c.1420 p.D474N 0.997 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144866706 144866706 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 144866706 144866706 C G SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.5536 p.E1846Q 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDE5A 8654 genome.wustl.edu 37 4 120549699 120549699 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 120549699 120549699 G A SNP PDE5A ENST00000354960 human ensembl 70_37 -1 known missense c.128 p.S43L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC PDE6A 5145 genome.wustl.edu 37 5 149324192 149324192 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 149324192 149324192 C T SNP PDE6A ENST00000255266 human ensembl 70_37 -1 known silent c.45 p.S15 0.124 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC PDHX 8050 genome.wustl.edu 37 11 34988258 34988258 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 34988258 34988258 C T SNP PDHX ENST00000227868 human ensembl 70_37 +1 known missense c.713 p.T238I 0.030 NULL pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC PDIA5 10954 genome.wustl.edu 37 3 122821309 122821309 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122821309 122821309 G A SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known silent c.309 p.P103 0.899 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC PDIA5 10954 genome.wustl.edu 37 3 122865098 122865098 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122865098 122865098 G A SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known nonsense c.1134 p.W378* 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC PDK4 5166 genome.wustl.edu 37 7 95216836 95216836 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 95216836 95216836 G A SNP PDK4 ENST00000005178 human ensembl 70_37 -1 known missense c.875 p.S292L 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC PDLIM7 9260 genome.wustl.edu 37 5 176917893 176917893 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176917893 176917893 C T SNP PDLIM7 ENST00000355841 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC PDLIM7 9260 genome.wustl.edu 37 5 176918017 176918017 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176918017 176918017 C T SNP PDLIM7 ENST00000355841 human ensembl 70_37 -1 known missense c.529 p.E177K 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC PDSS2 57107 genome.wustl.edu 37 6 107780455 107780455 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 107780455 107780455 C G SNP PDSS2 ENST00000369037 human ensembl 70_37 -1 known missense c.35 p.R12P 0.028 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC PDZD2 23037 genome.wustl.edu 37 5 32048674 32048674 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 32048674 32048674 G A SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.1549 p.E517K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PDZK1IP1 10158 genome.wustl.edu 37 1 47650858 47650858 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 47650858 47650858 G A SNP PDZK1IP1 ENST00000491793 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors PDZK1IP1 HGNC PDZRN4 29951 genome.wustl.edu 37 12 41966994 41966994 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 41966994 41966994 G A SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known missense c.2413 p.E805K 0.998 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC PEF1 553115 genome.wustl.edu 37 1 32098193 32098193 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 32098193 32098193 G C SNP PEF1 ENST00000373703 human ensembl 70_37 -1 known missense c.528 p.F176L 1.000 smart_EF_hand_Ca-bd pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors PEF1 HGNC PEMT 10400 genome.wustl.edu 37 17 17412829 17412829 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 17412829 17412829 C T SNP PEMT ENST00000255389 human ensembl 70_37 -1 known missense c.497 p.R166K 1.000 pfam_PEMT,pirsf_PEMT/MFAP pfam_PEMT,pirsf_PEMT/MFAP - no_errors PEMT HGNC PFAS 5198 genome.wustl.edu 37 17 8161487 8161487 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8161487 8161487 G C SNP PFAS ENST00000314666 human ensembl 70_37 +1 known missense c.1306 p.D436H 0.073 superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC PGBD1 84547 genome.wustl.edu 37 6 28269029 28269029 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28269029 28269029 G C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1398 p.L466F 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC PGK1 5230 genome.wustl.edu 37 X 77380791 77380791 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 77380791 77380791 C T SNP PGK1 ENST00000476531 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PGK1 HGNC PHC2 1912 genome.wustl.edu 37 1 33838043 33838043 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33838043 33838043 G C SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.180 p.I60M 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC PHEX 5251 genome.wustl.edu 37 X 22115103 22115103 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 22115103 22115103 G A SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.880 p.E294K 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC PHF12 57649 genome.wustl.edu 37 17 27240257 27240257 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27240257 27240257 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known silent c.1332 p.L444 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC PHF14 9678 genome.wustl.edu 37 7 11101423 11101423 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 11101423 11101423 C T SNP PHF14 ENST00000403050 human ensembl 70_37 +1 known silent c.2487 p.T829 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC PHF17 79960 genome.wustl.edu 37 4 129773220 129773220 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 129773220 129773220 G A SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known missense c.493 p.E165K 0.801 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC PHF20L1 51105 genome.wustl.edu 37 8 133858144 133858144 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 133858144 133858144 G A SNP PHF20L1 ENST00000220847 human ensembl 70_37 +1 known silent c.1191 p.Q397 0.965 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC PHF21B 112885 genome.wustl.edu 37 22 45309894 45309894 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45309894 45309894 G C SNP PHF21B ENST00000313237 human ensembl 70_37 -1 known silent c.639 p.L213 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC PHF3 23469 genome.wustl.edu 37 6 64394152 64394152 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 64394152 64394152 G C SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known missense c.529 p.E177Q 0.993 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC PHKB 5257 genome.wustl.edu 37 16 47621660 47621660 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 47621660 47621660 G T SNP PHKB ENST00000299167 human ensembl 70_37 +1 known nonsense c.856 p.E286* 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC PHRF1 57661 genome.wustl.edu 37 11 591399 591399 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 591399 591399 C G SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.436 p.P146A 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC PIEZO1 9780 genome.wustl.edu 37 16 88801568 88801568 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88801568 88801568 C T SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel silent c.1644 p.L548 0.016 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC PIGH 5283 genome.wustl.edu 37 14 68066806 68066806 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 68066806 68066806 G A SNP PIGH ENST00000216452 human ensembl 70_37 -1 known missense c.115 p.R39C 1.000 NULL pfam_GPI-GlcNAc_Trfase_PIG-H_dom - no_errors PIGH HGNC PIGK 10026 genome.wustl.edu 37 1 77627295 77627295 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 77627295 77627295 C G SNP PIGK ENST00000370812 human ensembl 70_37 -1 known missense c.686 p.G229A 1.000 pfam_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC PIGQ 9091 genome.wustl.edu 37 16 624234 624234 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 624234 624234 C T SNP PIGQ ENST00000026218 human ensembl 70_37 +1 known nonsense c.160 p.Q54* 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC PIGZ 80235 genome.wustl.edu 37 3 196674919 196674919 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196674919 196674919 G T SNP PIGZ ENST00000412723 human ensembl 70_37 -1 known silent c.849 p.P283 0.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 PIK3CG 5294 genome.wustl.edu 37 7 106508780 106508780 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 106508780 106508780 G C SNP PIK3CG ENST00000359195 human ensembl 70_37 +1 known silent c.774 p.L258 0.987 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,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 PIK3CG HGNC PIK3R1 5295 genome.wustl.edu 37 5 67522828 67522828 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 67522828 67522828 G A SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 NULL pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIK3R1 5295 genome.wustl.edu 37 5 67589548 67589548 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 67589548 67589548 C G SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known silent c.1311 p.V437 1.000 superfamily_Guanylate-bd_C,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PITX2 5308 genome.wustl.edu 37 4 111553603 111553603 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 111553603 111553603 G T SNP PITX2 ENST00000354925 human ensembl 70_37 -1 known missense c.80 p.S27Y 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX2 HGNC PIWIL3 440822 genome.wustl.edu 37 22 25150144 25150144 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 25150144 25150144 G A SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.814 p.L272F 0.999 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC PJA2 9867 genome.wustl.edu 37 5 108698712 108698712 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 108698712 108698712 G A SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known missense c.1481 p.S494F 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC PJA2 9867 genome.wustl.edu 37 5 108698717 108698717 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 108698717 108698717 C G SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known missense c.1476 p.Q492H 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC PKD1 5310 genome.wustl.edu 37 16 2161292 2161292 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2161292 2161292 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.3876 p.F1292 0.975 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51890945 51890945 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 51890945 51890945 G C SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.3663 p.F1221L 0.168 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51921587 51921587 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 51921587 51921587 C G SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known splice_site c.1603-1 e17-1 1.000 - - - no_errors PKHD1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110478968 110478968 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110478968 110478968 G C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.8575 p.E2859Q 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PKLR 5313 genome.wustl.edu 37 1 155263012 155263012 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155263012 155263012 G C SNP PKLR ENST00000342741 human ensembl 70_37 -1 known missense c.1392 p.F464L 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC PLA2G12B 84647 genome.wustl.edu 37 10 74695429 74695429 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 74695429 74695429 C T SNP PLA2G12B ENST00000373032 human ensembl 70_37 -1 known missense c.534 p.M178I 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC PLA2G2F 64600 genome.wustl.edu 37 1 20471149 20471149 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 20471149 20471149 C G SNP PLA2G2F ENST00000375102 human ensembl 70_37 +1 known missense c.391 p.H131D 0.009 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors PLA2G2F HGNC PLCB1 23236 genome.wustl.edu 37 20 8632317 8632317 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 8632317 8632317 C G SNP PLCB1 ENST00000475958 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PLCB1 HGNC PLCE1 51196 genome.wustl.edu 37 10 96064319 96064319 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 96064319 96064319 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.5539 p.D1847H 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLCG2 5336 genome.wustl.edu 37 16 81973535 81973535 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 81973535 81973535 G C SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.3352 p.E1118Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC PLCH1 23007 genome.wustl.edu 37 3 155203943 155203943 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 155203943 155203943 G C SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.2636 p.A879G 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCL2 23228 genome.wustl.edu 37 3 17053435 17053435 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 17053435 17053435 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.2219 p.G740E 0.999 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC PLD1 5337 genome.wustl.edu 37 3 171453323 171453323 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 171453323 171453323 G C SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known silent c.393 p.L131 0.807 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC PLEC 5339 genome.wustl.edu 37 8 144996117 144996117 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144996117 144996117 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.8283 p.K2761N 0.367 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 145006129 145006129 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145006129 145006129 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.2565 p.L855 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 145012332 145012332 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145012332 145012332 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.662 p.S221L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 145024811 145024811 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145024811 145024811 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.64 p.E22K 1.000 pfam_S10_plectin_N pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHA1 59338 genome.wustl.edu 37 10 124191267 124191267 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124191267 124191267 C G SNP PLEKHA1 ENST00000479786 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors PLEKHA1 HGNC PLEKHA8 84725 genome.wustl.edu 37 7 30118402 30118402 + Nonstop_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 30118402 30118402 G C SNP PLEKHA8 ENST00000449726 human ensembl 70_37 +1 known nonstop c.1559 p.*520S 1.000 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC PLEKHG3 26030 genome.wustl.edu 37 14 65210858 65210858 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 65210858 65210858 G C SNP PLEKHG3 ENST00000492928 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PLEKHG3 HGNC PLEKHG3 26030 genome.wustl.edu 37 14 65210909 65210909 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 65210909 65210909 G C SNP PLEKHG3 ENST00000492928 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors PLEKHG3 HGNC PLEKHO2 80301 genome.wustl.edu 37 15 65157665 65157665 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65157665 65157665 G C SNP PLEKHO2 ENST00000323544 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.068 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC PLIN2 123 genome.wustl.edu 37 9 19126026 19126026 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 19126026 19126026 G C SNP PLIN2 ENST00000472715 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLIN2 HGNC PLIN4 729359 genome.wustl.edu 37 19 4513500 4513500 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4513500 4513500 G C SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.430 p.L144V 0.040 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PLIN5 440503 genome.wustl.edu 37 19 4529814 4529814 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4529814 4529814 G A SNP PLIN5 ENST00000381848 human ensembl 70_37 -1 known silent c.321 p.L107 0.855 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC PLOD1 5351 genome.wustl.edu 37 1 12032750 12032750 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 12032750 12032750 G A SNP PLOD1 ENST00000481933 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PLOD1 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153697543 153697543 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153697543 153697543 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.4579 p.E1527K 0.998 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PM20D1 148811 genome.wustl.edu 37 1 205799287 205799287 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 205799287 205799287 C T SNP PM20D1 ENST00000469861 human ensembl 70_37 -1 putative rna NULL NULL 0.018 - - - no_errors PM20D1 HGNC PML 5371 genome.wustl.edu 37 15 74328176 74328176 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 74328176 74328176 G A SNP PML ENST00000268059 human ensembl 70_37 +1 known missense c.2374 p.E792K 0.004 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC PNKP 11284 genome.wustl.edu 37 19 50365331 50365331 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 50365331 50365331 G A SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.1158 p.L386 0.294 tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC PNKP 11284 genome.wustl.edu 37 19 50365343 50365343 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 50365343 50365343 G T SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC PNPLA2 57104 genome.wustl.edu 37 11 821706 821706 + Missense_Mutation SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 821706 821706 A G SNP PNPLA2 ENST00000336615 human ensembl 70_37 +1 known missense c.266 p.N89S 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC PNPLA3 80339 genome.wustl.edu 37 22 44319931 44319931 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 44319931 44319931 C T SNP PNPLA3 ENST00000216180 human ensembl 70_37 +1 known missense c.140 p.S47L 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC PODN 127435 genome.wustl.edu 37 1 53537219 53537219 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53537219 53537219 G C SNP PODN ENST00000312553 human ensembl 70_37 +1 known missense c.469 p.E157Q 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC PODNL1 79883 genome.wustl.edu 37 19 14042666 14042666 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14042666 14042666 C T SNP PODNL1 ENST00000587954 human ensembl 70_37 -1 putative silent c.407 p.*136 0.775 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC POLQ 10721 genome.wustl.edu 37 3 121208673 121208673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121208673 121208673 C G SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.3105 p.M1035I 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC POLR1E 64425 genome.wustl.edu 37 9 37503116 37503116 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 37503116 37503116 G C SNP POLR1E ENST00000377792 human ensembl 70_37 +1 known missense c.1363 p.D455H 0.803 pfam_RNA_pol-assoc_fac_A49-like pfam_RNA_pol-assoc_fac_A49-like - no_errors POLR1E HGNC POLR2A 5430 genome.wustl.edu 37 17 7416923 7416923 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7416923 7416923 C T SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.5340 p.S1780 0.997 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC POLR2J3 548644 genome.wustl.edu 37 7 102212863 102212863 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102212863 102212863 G A SNP POLR2J3 ENST00000504157 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors POLR2J3 HGNC POLR3C 10623 genome.wustl.edu 37 1 145596999 145596999 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 145596999 145596999 C G SNP POLR3C ENST00000334163 human ensembl 70_37 -1 known missense c.1126 p.E376Q 1.000 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC POTED 317754 genome.wustl.edu 37 21 15003385 15003385 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 15003385 15003385 G A SNP POTED ENST00000299443 human ensembl 70_37 +1 known missense c.1366 p.E456K 0.001 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 POTED HGNC POU2F3 25833 genome.wustl.edu 37 11 120111078 120111078 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 120111078 120111078 C G SNP POU2F3 ENST00000260264 human ensembl 70_37 +1 known missense c.26 p.T9R 0.999 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC POU3F3 5455 genome.wustl.edu 37 2 105473121 105473121 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 105473121 105473121 G C SNP POU3F3 ENST00000361360 human ensembl 70_37 +1 known missense c.1153 p.E385Q 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,prints_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU3F3 HGNC POU3F3 5455 genome.wustl.edu 37 2 105473394 105473394 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 105473394 105473394 G A SNP POU3F3 ENST00000361360 human ensembl 70_37 +1 known missense c.1426 p.D476N 1.000 superfamily_Homeodomain-like,pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU3F3 HGNC POU5F1 5460 genome.wustl.edu 37 6 31138112 31138112 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31138112 31138112 C T SNP POU5F1 ENST00000259915 human ensembl 70_37 -1 known missense c.286 p.E96K 0.798 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC PPAP2B 8613 genome.wustl.edu 37 1 56977718 56977718 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 56977718 56977718 G C SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known nonsense c.740 p.S247* 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC PPAP2B 8613 genome.wustl.edu 37 1 56990200 56990200 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 56990200 56990200 G C SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known missense c.324 p.I108M 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC PPAPDC1B 84513 genome.wustl.edu 37 8 38126363 38126363 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38126363 38126363 C T SNP PPAPDC1B ENST00000527793 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PPAPDC1B HGNC PPARD 5467 genome.wustl.edu 37 6 35392162 35392162 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 35392162 35392162 G C SNP PPARD ENST00000311565 human ensembl 70_37 +1 known missense c.684 p.W228C 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt_B,prints_1Cnucl_rcpt_A pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt - no_errors PPARD HGNC PPCS 79717 genome.wustl.edu 37 1 42922779 42922779 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 42922779 42922779 G C SNP PPCS ENST00000472013 human ensembl 70_37 +1 known rna NULL NULL 0.234 - - - no_errors PPCS HGNC PPIL2 23759 genome.wustl.edu 37 22 22035640 22035640 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 22035640 22035640 C G SNP PPIL2 ENST00000412327 human ensembl 70_37 +1 known missense c.348 p.I116M 0.962 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC PPIP5K2 23262 genome.wustl.edu 37 5 102494886 102494886 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 102494886 102494886 C G SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.1774 p.L592V 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC PPP1R12B 4660 genome.wustl.edu 37 1 202471377 202471377 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 202471377 202471377 C G SNP PPP1R12B ENST00000498070 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP1R12B HGNC PPP1R13L 10848 genome.wustl.edu 37 19 45895303 45895303 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 45895303 45895303 G A SNP PPP1R13L ENST00000360957 human ensembl 70_37 -1 known silent c.1650 p.L550 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC PPP1R16A 84988 genome.wustl.edu 37 8 145724337 145724337 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145724337 145724337 C T SNP PPP1R16A ENST00000292539 human ensembl 70_37 +1 known silent c.369 p.L123 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC PPP1R3G 648791 genome.wustl.edu 37 6 5086746 5086746 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 5086746 5086746 G T SNP PPP1R3G ENST00000405617 human ensembl 70_37 +1 novel missense c.1027 p.A343S 0.275 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3G HGNC PPP1R8 5511 genome.wustl.edu 37 1 28178052 28178052 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 28178052 28178052 C T SNP PPP1R8 ENST00000486634 human ensembl 70_37 +1 putative rna NULL NULL 0.050 - - - no_errors PPP1R8 HGNC PPP2R2A 5520 genome.wustl.edu 37 8 26227787 26227787 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 26227787 26227787 G A SNP PPP2R2A ENST00000380737 human ensembl 70_37 +1 known missense c.1202 p.G401D 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC PPP2R2C 5522 genome.wustl.edu 37 4 6382809 6382809 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 6382809 6382809 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known missense c.83 p.S28C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC PPP4R1 9989 genome.wustl.edu 37 18 9557315 9557315 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 9557315 9557315 C T SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known silent c.2094 p.L698 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC PPP4R1L 55370 genome.wustl.edu 37 20 56818699 56818699 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 56818699 56818699 C T SNP PPP4R1L ENST00000497138 human ensembl 70_37 -1 known missense c.85 p.E29K 0.000 NULL superfamily_ARM-type_fold - no_errors PPP4R1L HGNC PPP4R1L 55370 genome.wustl.edu 37 20 56818705 56818705 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 56818705 56818705 C T SNP PPP4R1L ENST00000497138 human ensembl 70_37 -1 known missense c.79 p.E27K 0.005 NULL superfamily_ARM-type_fold - no_errors PPP4R1L HGNC PPP6R1 22870 genome.wustl.edu 37 19 55743238 55743238 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55743238 55743238 G A SNP PPP6R1 ENST00000412770 human ensembl 70_37 -1 known silent c.2238 p.L746 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC PPP6R2 9701 genome.wustl.edu 37 22 50878267 50878267 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 50878267 50878267 G A SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known missense c.2266 p.D756N 0.999 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC PQBP1 10084 genome.wustl.edu 37 X 48758478 48758478 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48758478 48758478 G C SNP PQBP1 ENST00000218224 human ensembl 70_37 +1 known missense c.79 p.E27Q 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PQBP1 HGNC PRDM1 639 genome.wustl.edu 37 6 106555001 106555001 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 106555001 106555001 G A SNP PRDM1 ENST00000369096 human ensembl 70_37 +1 known silent c.2118 p.L706 0.998 smart_Znf_C2H2-like,pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC PRDM11 56981 genome.wustl.edu 37 11 45241295 45241295 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 45241295 45241295 C T SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known silent c.831 p.R277 1.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC PRICKLE4 29964 genome.wustl.edu 37 6 41752606 41752606 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41752606 41752606 C A SNP PRICKLE4 ENST00000463606 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors PRICKLE4 HGNC PRIM2 5558 genome.wustl.edu 37 6 57512726 57512726 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 57512726 57512726 C G SNP PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 0.106 - - - no_errors PRIM2 HGNC PRKACB 5567 genome.wustl.edu 37 1 84644606 84644606 + RNA SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 84644606 84644606 A C SNP PRKACB ENST00000467507 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PRKACB HGNC PRKCA 5578 genome.wustl.edu 37 17 64783006 64783006 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 64783006 64783006 G A SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known missense c.1627 p.E543K 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC PRKCI 5584 genome.wustl.edu 37 3 169953073 169953073 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 169953073 169953073 G C SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.157 p.E53Q 1.000 pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC PRKCI 5584 genome.wustl.edu 37 3 170011255 170011255 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170011255 170011255 C T SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.1376 p.S459F 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,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC PRKDC 5591 genome.wustl.edu 37 8 48751794 48751794 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 48751794 48751794 C T SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.7465 p.E2489K 0.994 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRKDC 5591 genome.wustl.edu 37 8 48839863 48839863 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 48839863 48839863 C T SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.2310 p.L770 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRKRIP1 79706 genome.wustl.edu 37 7 102006471 102006471 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102006471 102006471 C G SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PRKRIP1 HGNC PRKRIP1 79706 genome.wustl.edu 37 7 102065520 102065520 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102065520 102065520 G A SNP PRKRIP1 ENST00000397912 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 pfam_DUF1168 pfam_DUF1168 - no_errors PRKRIP1 HGNC PRKRIP1 79706 genome.wustl.edu 37 7 102065730 102065730 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102065730 102065730 G C SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors PRKRIP1 HGNC PRKRIP1 79706 genome.wustl.edu 37 7 102065804 102065804 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102065804 102065804 G C SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PRKRIP1 HGNC PRKRIP1 79706 genome.wustl.edu 37 7 102066384 102066384 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102066384 102066384 G T SNP PRKRIP1 ENST00000482465 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PRKRIP1 HGNC PROCA1 147011 genome.wustl.edu 37 17 27037975 27037975 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27037975 27037975 G A SNP PROCA1 ENST00000422880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PROCA1 HGNC PROCA1 147011 genome.wustl.edu 37 17 27037983 27037983 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27037983 27037983 G A SNP PROCA1 ENST00000422880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PROCA1 HGNC PROKR2 128674 genome.wustl.edu 37 20 5294944 5294944 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 5294944 5294944 G C SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known silent c.72 p.L24 0.368 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC PRPF38A 84950 genome.wustl.edu 37 1 52882338 52882338 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 52882338 52882338 G A SNP PRPF38A ENST00000257181 human ensembl 70_37 +1 known silent c.915 p.K305 1.000 NULL pfam_PRP38 - no_errors PRPF38A HGNC PRPF38A 84950 genome.wustl.edu 37 1 52882504 52882504 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 52882504 52882504 G A SNP PRPF38A ENST00000474048 human ensembl 70_37 +1 known rna NULL NULL 0.914 - - - no_errors PRPF38A HGNC PRPF40B 25766 genome.wustl.edu 37 12 50028990 50028990 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 50028990 50028990 G A SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known silent c.1044 p.Q348 1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC PRPH 5630 genome.wustl.edu 37 12 49689217 49689217 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49689217 49689217 C G SNP PRPH ENST00000257860 human ensembl 70_37 +1 known silent c.234 p.L78 0.972 pfam_Intermed_filament_DNA-bd pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC PRR14 78994 genome.wustl.edu 37 16 30663238 30663238 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30663238 30663238 C G SNP PRR14 ENST00000300835 human ensembl 70_37 +1 known missense c.145 p.R49G 1.000 NULL NULL - no_errors PRR14 HGNC PRR3 80742 genome.wustl.edu 37 6 30525127 30525127 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30525127 30525127 G A SNP PRR3 ENST00000376560 human ensembl 70_37 +1 known silent c.6 p.P2 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors PRR3 HGNC PRR5 55615 genome.wustl.edu 37 22 45132663 45132663 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45132663 45132663 C T SNP PRR5 ENST00000336985 human ensembl 70_37 +1 known missense c.703 p.L235F 0.043 NULL pfam_HbrB - no_errors PRR5 HGNC PRRC2A 7916 genome.wustl.edu 37 6 31591540 31591540 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31591540 31591540 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known silent c.144 p.G48 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2A HGNC PRRC2C 23215 genome.wustl.edu 37 1 171454842 171454842 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 171454842 171454842 C G SNP PRRC2C ENST00000467601 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRRC2C HGNC PRSS12 8492 genome.wustl.edu 37 4 119239689 119239689 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 119239689 119239689 G C SNP PRSS12 ENST00000296498 human ensembl 70_37 -1 known missense c.994 p.Q332E 0.480 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A - no_errors PRSS12 HGNC PRTFDC1 56952 genome.wustl.edu 37 10 25160966 25160966 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 25160966 25160966 C G SNP PRTFDC1 ENST00000320152 human ensembl 70_37 -1 known missense c.366 p.Q122H 0.998 pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC PRX 57716 genome.wustl.edu 37 19 40901379 40901379 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40901379 40901379 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known silent c.2880 p.S960 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC PRX 57716 genome.wustl.edu 37 19 40901380 40901380 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40901380 40901380 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.2879 p.S960F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC PSG6 5675 genome.wustl.edu 37 19 43414888 43414888 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 43414888 43414888 G C SNP PSG6 ENST00000292125 human ensembl 70_37 -1 known missense c.550 p.Q184E 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC PSKH2 85481 genome.wustl.edu 37 8 87076230 87076230 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 87076230 87076230 C G SNP PSKH2 ENST00000276616 human ensembl 70_37 -1 known missense c.816 p.R272S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PSKH2 HGNC PSRC1 84722 genome.wustl.edu 37 1 109823694 109823694 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 109823694 109823694 C T SNP PSRC1 ENST00000438534 human ensembl 70_37 -1 known silent c.699 p.L233 0.009 NULL NULL - no_errors PSRC1 HGNC PSTK 118672 genome.wustl.edu 37 10 124746889 124746889 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124746889 124746889 G C SNP PSTK ENST00000368887 human ensembl 70_37 +1 known missense c.917 p.R306T 0.010 NULL pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC PTBP1 5725 genome.wustl.edu 37 19 804855 804855 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 804855 804855 G A SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known silent c.633 p.L211 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC PTGER2 5732 genome.wustl.edu 37 14 52781935 52781935 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 52781935 52781935 C T SNP PTGER2 ENST00000245457 human ensembl 70_37 +1 known silent c.669 p.I223 0.694 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC PTGFRN 5738 genome.wustl.edu 37 1 117487580 117487580 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 117487580 117487580 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known missense c.698 p.S233L 0.773 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC PTPN21 11099 genome.wustl.edu 37 14 89016638 89016638 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 89016638 89016638 C G SNP PTPN21 ENST00000328736 human ensembl 70_37 -1 known missense c.124 p.E42Q 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC PTPN23 25930 genome.wustl.edu 37 3 47449934 47449934 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 47449934 47449934 C T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known silent c.1284 p.L428 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC PTPRA 5786 genome.wustl.edu 37 20 2967413 2967413 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2967413 2967413 G A SNP PTPRA ENST00000425918 human ensembl 70_37 +1 known missense c.478 p.E160K 1.000 pirsf_Tyr_Pase_rcpt_a/e-type pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC PTPRB 5787 genome.wustl.edu 37 12 70965766 70965766 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 70965766 70965766 C G SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.2944 p.V982L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC PTPRD 5789 genome.wustl.edu 37 9 8518128 8518128 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 8518128 8518128 C T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known silent c.1263 p.P421 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC PTPRF 5792 genome.wustl.edu 37 1 44019601 44019601 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44019601 44019601 C G SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known nonsense c.368 p.S123* 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC PTPRF 5792 genome.wustl.edu 37 1 44057179 44057179 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44057179 44057179 G A SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.1486 p.D496N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC PTPRK 5796 genome.wustl.edu 37 6 128399990 128399990 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 128399990 128399990 C G SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.1851 p.L617F 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC PTPRT 11122 genome.wustl.edu 37 20 40713456 40713456 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 40713456 40713456 G T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.4068 p.H1356Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC PTPRU 10076 genome.wustl.edu 37 1 29585841 29585841 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 29585841 29585841 C T SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known silent c.546 p.L182 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC PTTG1IP 754 genome.wustl.edu 37 21 46285354 46285354 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 46285354 46285354 G C SNP PTTG1IP ENST00000330938 human ensembl 70_37 -1 known missense c.124 p.Q42E 0.043 smart_Plexin-like smart_Plexin-like - no_errors PTTG1IP HGNC PUF60 22827 genome.wustl.edu 37 8 144904725 144904725 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144904725 144904725 C G SNP PUF60 ENST00000524570 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PUF60 HGNC PUM1 9698 genome.wustl.edu 37 1 31465384 31465384 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 31465384 31465384 G C SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.1011 p.F337L 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC PUM1 9698 genome.wustl.edu 37 1 31478834 31478834 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 31478834 31478834 G A SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known nonsense c.586 p.Q196* 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC PUS1 80324 genome.wustl.edu 37 12 132425950 132425950 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 132425950 132425950 G A SNP PUS1 ENST00000376649 human ensembl 70_37 +1 known missense c.658 p.E220K 0.550 superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC PVRL2 5819 genome.wustl.edu 37 19 45391612 45391612 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 45391612 45391612 C A SNP PVRL2 ENST00000252483 human ensembl 70_37 +1 known silent c.1593 p.V531 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC PVRL3 25945 genome.wustl.edu 37 3 110837554 110837554 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 110837554 110837554 G T SNP PVRL3 ENST00000485303 human ensembl 70_37 +1 known missense c.554 p.G185V 1.000 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC PVRL3 25945 genome.wustl.edu 37 3 110863797 110863797 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 110863797 110863797 G C SNP PVRL3 ENST00000493615 human ensembl 70_37 +1 putative missense c.1052 p.G351A 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC PXMP2 5827 genome.wustl.edu 37 12 133272473 133272473 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 133272473 133272473 C G SNP PXMP2 ENST00000317479 human ensembl 70_37 +1 known missense c.240 p.F80L 0.991 NULL pfam_Mpv17_PMP22 - no_errors PXMP2 HGNC PYCR1 5831 genome.wustl.edu 37 17 79892976 79892976 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79892976 79892976 G A SNP PYCR1 ENST00000329875 human ensembl 70_37 -1 known silent c.366 p.T122 0.997 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_NADP_OxRdtase_F420,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC PYGB 5834 genome.wustl.edu 37 20 25258981 25258981 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 25258981 25258981 G A SNP PYGB ENST00000216962 human ensembl 70_37 +1 known silent c.882 p.L294 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC QPRT 23475 genome.wustl.edu 37 16 29706186 29706186 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29706186 29706186 C G SNP QPRT ENST00000395384 human ensembl 70_37 +1 known missense c.215 p.S72C 0.503 pfam_Quinolinate_PRibosylTrfase_N,tigrfam_NadC pfam_Quinolinate_PRibosylTrfase_C,pfam_Quinolinate_PRibosylTrfase_N,superfamily_Quinolinate_PRibosylTrfase_C,tigrfam_NadC - no_errors QPRT HGNC QSER1 79832 genome.wustl.edu 37 11 32975573 32975573 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 32975573 32975573 G C SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.3961 p.D1321H 1.000 NULL NULL - no_errors QSER1 HGNC RAB11FIP1 80223 genome.wustl.edu 37 8 37729373 37729373 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 37729373 37729373 C A SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known nonsense c.2947 p.E983* 0.019 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC RAB19 401409 genome.wustl.edu 37 7 140125875 140125875 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 140125875 140125875 G C SNP RAB19 ENST00000275874 human ensembl 70_37 +1 known silent c.720 p.L240 0.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RAB19 HGNC RAB23 51715 genome.wustl.edu 37 6 57061377 57061377 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 57061377 57061377 G C SNP RAB23 ENST00000317483 human ensembl 70_37 -1 known missense c.269 p.S90C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB23 HGNC RAB26 25837 genome.wustl.edu 37 16 2201859 2201859 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2201859 2201859 C G SNP RAB26 ENST00000210187 human ensembl 70_37 +1 known missense c.418 p.L140V 0.603 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB26 HGNC RAB2B 84932 genome.wustl.edu 37 14 21929394 21929394 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21929394 21929394 C T SNP RAB2B ENST00000397762 human ensembl 70_37 -1 known silent c.612 p.R204 0.033 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB2B HGNC RAB31 11031 genome.wustl.edu 37 18 9845603 9845603 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 9845603 9845603 G C SNP RAB31 ENST00000306096 human ensembl 70_37 +1 known missense c.405 p.K135N 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB31 HGNC RAB37 326624 genome.wustl.edu 37 17 72741031 72741031 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 72741031 72741031 G C SNP RAB37 ENST00000392614 human ensembl 70_37 +1 known missense c.467 p.R156T 1.000 pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB37 HGNC RAB3C 115827 genome.wustl.edu 37 5 57879050 57879050 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 57879050 57879050 G A SNP RAB3C ENST00000282878 human ensembl 70_37 +1 known silent c.15 p.A5 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,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 RAB3C HGNC RAB3IL1 5866 genome.wustl.edu 37 11 61665758 61665758 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 61665758 61665758 C T SNP RAB3IL1 ENST00000394836 human ensembl 70_37 -1 known missense c.1141 p.E381K 1.000 NULL pfam_Sec2p - no_errors RAB3IL1 HGNC RAB6C 84084 genome.wustl.edu 37 2 130737913 130737913 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 130737913 130737913 C G SNP RAB6C ENST00000410061 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,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 RAB6C HGNC RAB6C 84084 genome.wustl.edu 37 2 130738343 130738343 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 130738343 130738343 C G SNP RAB6C ENST00000410061 human ensembl 70_37 +1 known missense c.655 p.Q219E 0.160 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RAB6C HGNC RAD21 5885 genome.wustl.edu 37 8 117878870 117878870 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 117878870 117878870 G A SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known silent c.99 p.F33 0.996 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC RAD50 10111 genome.wustl.edu 37 5 131923747 131923747 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 131923747 131923747 C G SNP RAD50 ENST00000265335 human ensembl 70_37 +1 known silent c.1017 p.L339 0.993 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC RAD51AP2 729475 genome.wustl.edu 37 2 17698314 17698314 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 17698314 17698314 C T SNP RAD51AP2 ENST00000399080 human ensembl 70_37 -1 known missense c.1369 p.E457K 0.000 NULL NULL - no_errors RAD51AP2 HGNC RAD51D 5892 genome.wustl.edu 37 17 33433235 33433235 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33433235 33433235 G A SNP RAD51D ENST00000588372 human ensembl 70_37 -1 known missense c.253 p.H85Y 0.009 NULL NULL - no_errors RAD51D HGNC RAD51D 5892 genome.wustl.edu 37 17 33448464 33448464 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33448464 33448464 C G SNP RAD51D ENST00000415064 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAD51D HGNC RAD54B 25788 genome.wustl.edu 37 8 95390835 95390835 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 95390835 95390835 G A SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known nonsense c.2275 p.Q759* 1.000 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC RAD54B 25788 genome.wustl.edu 37 8 95479678 95479678 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 95479678 95479678 C G SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known silent c.90 p.L30 0.011 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC RAET1G 353091 genome.wustl.edu 37 6 150240369 150240369 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 150240369 150240369 G C SNP RAET1G ENST00000367360 human ensembl 70_37 -1 known missense c.441 p.I147M 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1G HGNC RAG1 5896 genome.wustl.edu 37 11 36596661 36596661 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 36596661 36596661 G C SNP RAG1 ENST00000299440 human ensembl 70_37 +1 known missense c.1807 p.D603H 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC RAI1 10743 genome.wustl.edu 37 17 17699089 17699089 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 17699089 17699089 G C SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.2827 p.E943Q 0.984 NULL smart_Znf_PHD - no_errors RAI1 HGNC RALGAPA1 253959 genome.wustl.edu 37 14 36159158 36159158 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 36159158 36159158 G A SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.2459 p.S820L 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC RALGAPA2 57186 genome.wustl.edu 37 20 20621513 20621513 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 20621513 20621513 C T SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.382 p.E128K 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC RALGDS 5900 genome.wustl.edu 37 9 135973188 135973188 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 135973188 135973188 C T SNP RALGDS ENST00000469972 human ensembl 70_37 -1 known rna NULL NULL 0.879 - - - no_errors RALGDS HGNC RANBP2 5903 genome.wustl.edu 37 2 109381352 109381352 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109381352 109381352 C T SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.4357 p.H1453Y 0.137 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC RANBP2 5903 genome.wustl.edu 37 2 109383853 109383853 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109383853 109383853 G C SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.6858 p.Q2286H 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC RAPGEF1 2889 genome.wustl.edu 37 9 134503309 134503309 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 134503309 134503309 C T SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.1195 p.E399K 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC RAPGEF3 10411 genome.wustl.edu 37 12 48131380 48131380 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 48131380 48131380 G C SNP RAPGEF3 ENST00000389212 human ensembl 70_37 -1 known silent c.2742 p.L914 0.135 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC RAPGEF4 11069 genome.wustl.edu 37 2 173832152 173832152 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 173832152 173832152 G C SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.984 p.M328I 1.000 NULL pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC RARG 5916 genome.wustl.edu 37 12 53607434 53607434 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53607434 53607434 G C SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.864 p.F288L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC RARG 5916 genome.wustl.edu 37 12 53608258 53608258 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53608258 53608258 G A SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.608 p.S203L 0.999 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC RASA2 5922 genome.wustl.edu 37 3 141292835 141292835 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 141292835 141292835 C G SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known nonsense c.1409 p.S470* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC RASA4CP 401331 genome.wustl.edu 37 7 44070415 44070415 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44070415 44070415 G A SNP RASA4CP ENST00000425524 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RASA4CP HGNC RASGRP4 115727 genome.wustl.edu 37 19 38910797 38910797 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38910797 38910797 C G SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.483 p.Q161H 0.979 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC RBBP4 5928 genome.wustl.edu 37 1 33145259 33145259 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33145259 33145259 G C SNP RBBP4 ENST00000373493 human ensembl 70_37 +1 known missense c.1231 p.D411H 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC RBBP8 5932 genome.wustl.edu 37 18 20573147 20573147 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 20573147 20573147 G C SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known missense c.1357 p.E453Q 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC RBM12B 389677 genome.wustl.edu 37 8 94747681 94747681 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 94747681 94747681 C G SNP RBM12B ENST00000399300 human ensembl 70_37 -1 known missense c.958 p.D320H 0.771 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC RBM12B 389677 genome.wustl.edu 37 8 94747717 94747717 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 94747717 94747717 C G SNP RBM12B ENST00000399300 human ensembl 70_37 -1 known missense c.922 p.D308H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC RBM20 282996 genome.wustl.edu 37 10 112541564 112541564 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112541564 112541564 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.1197 p.L399 0.949 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM20 282996 genome.wustl.edu 37 10 112541612 112541612 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112541612 112541612 C T SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.1245 p.S415 1.000 smart_Znf_U1 smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM20 282996 genome.wustl.edu 37 10 112572653 112572653 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112572653 112572653 G C SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.2498 p.R833T 0.932 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM20 282996 genome.wustl.edu 37 10 112581168 112581168 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112581168 112581168 G C SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.2791 p.E931Q 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM20 282996 genome.wustl.edu 37 10 112581300 112581300 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112581300 112581300 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.2923 p.E975K 0.993 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM42 79171 genome.wustl.edu 37 19 36125187 36125187 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36125187 36125187 G A SNP RBM42 ENST00000262633 human ensembl 70_37 +1 known silent c.1047 p.K349 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC RBM6 10180 genome.wustl.edu 37 3 50005788 50005788 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 50005788 50005788 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known silent c.930 p.V310 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC RBM6 10180 genome.wustl.edu 37 3 50005798 50005798 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 50005798 50005798 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.940 p.E314K 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC RBMS1 5937 genome.wustl.edu 37 2 161157214 161157214 + Silent SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 161157214 161157214 A G SNP RBMS1 ENST00000392753 human ensembl 70_37 -1 known silent c.588 p.A196 0.889 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC RBMXL1 494115 genome.wustl.edu 37 1 89448842 89448842 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 89448842 89448842 C G SNP RBMXL1 ENST00000321792 human ensembl 70_37 -1 known missense c.668 p.R223T 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC RC3H1 149041 genome.wustl.edu 37 1 173961967 173961967 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 173961967 173961967 C G SNP RC3H1 ENST00000258349 human ensembl 70_37 -1 known missense c.157 p.D53H 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC RDH16 8608 genome.wustl.edu 37 12 57351166 57351166 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57351166 57351166 C T SNP RDH16 ENST00000398138 human ensembl 70_37 -1 known silent c.81 p.L27 0.007 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC RELB 5971 genome.wustl.edu 37 19 45532204 45532204 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 45532204 45532204 C T SNP RELB ENST00000221452 human ensembl 70_37 +1 known silent c.945 p.C315 0.913 superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELB HGNC RELL2 285613 genome.wustl.edu 37 5 141019656 141019656 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 141019656 141019656 G A SNP RELL2 ENST00000297164 human ensembl 70_37 +1 known missense c.673 p.E225K 0.023 NULL pfam_TNF_rcpt_RELT - no_errors RELL2 HGNC RERE 473 genome.wustl.edu 37 1 8568728 8568728 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 8568728 8568728 C T SNP RERE ENST00000337907 human ensembl 70_37 -1 known silent c.837 p.L279 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC RFK 55312 genome.wustl.edu 37 9 79002231 79002231 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 79002231 79002231 C G SNP RFK ENST00000472900 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RFK HGNC RFPL2 10739 genome.wustl.edu 37 22 32589259 32589259 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 32589259 32589259 C G SNP RFPL2 ENST00000248980 human ensembl 70_37 -1 known missense c.3 p.M1I 0.002 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC RFPL4A 342931 genome.wustl.edu 37 19 56273173 56273173 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56273173 56273173 G C SNP RFPL4A ENST00000434937 human ensembl 70_37 +1 novel missense c.7 p.E3Q 0.004 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4A HGNC RFWD2 64326 genome.wustl.edu 37 1 175996801 175996801 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 175996801 175996801 C G SNP RFWD2 ENST00000367669 human ensembl 70_37 -1 known missense c.1636 p.D546H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC RFX7 64864 genome.wustl.edu 37 15 56387701 56387701 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 56387701 56387701 G A SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known missense c.2225 p.S742L 0.881 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC RGS12 6002 genome.wustl.edu 37 4 3344302 3344302 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 3344302 3344302 C T SNP RGS12 ENST00000306648 human ensembl 70_37 +1 known silent c.72 p.L24 0.000 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS12 HGNC RGS18 64407 genome.wustl.edu 37 1 192127819 192127819 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 192127819 192127819 G C SNP RGS18 ENST00000367460 human ensembl 70_37 +1 known missense c.52 p.E18Q 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS18 HGNC RGS22 26166 genome.wustl.edu 37 8 100994308 100994308 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 100994308 100994308 G A SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known nonsense c.3217 p.Q1073* 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC RGS3 5998 genome.wustl.edu 37 9 116224348 116224348 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116224348 116224348 G C SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.282 p.L94F 0.015 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC RGS3 5998 genome.wustl.edu 37 9 116356554 116356554 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116356554 116356554 G C SNP RGS3 ENST00000462403 human ensembl 70_37 +1 known missense c.355 p.E119Q 0.970 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC RGS3 5998 genome.wustl.edu 37 9 116356797 116356797 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116356797 116356797 G C SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.3168 p.M1056I 1.000 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC RHBDD2 57414 genome.wustl.edu 37 7 75510757 75510757 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 75510757 75510757 C T SNP RHBDD2 ENST00000466232 human ensembl 70_37 +1 putative rna NULL NULL 0.125 - - - no_errors RHBDD2 HGNC RHBG 57127 genome.wustl.edu 37 1 156354268 156354268 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156354268 156354268 C T SNP RHBG ENST00000451864 human ensembl 70_37 +1 known missense c.1064 p.S355F 0.017 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHBG HGNC RHEBL1 121268 genome.wustl.edu 37 12 49459141 49459141 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49459141 49459141 C G SNP RHEBL1 ENST00000301068 human ensembl 70_37 -1 known missense c.454 p.E152Q 0.995 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEBL1 HGNC RHOG 391 genome.wustl.edu 37 11 3848823 3848823 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 3848823 3848823 G C SNP RHOG ENST00000351018 human ensembl 70_37 -1 known missense c.546 p.I182M 0.923 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RHOG HGNC RHOU 58480 genome.wustl.edu 37 1 228879058 228879058 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 228879058 228879058 C G SNP RHOU ENST00000366691 human ensembl 70_37 +1 known silent c.348 p.L116 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,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 RHOU HGNC RIBC2 26150 genome.wustl.edu 37 22 45813487 45813487 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45813487 45813487 G A SNP RIBC2 ENST00000538017 human ensembl 70_37 +1 known missense c.202 p.E68K 0.999 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC RIF1 55183 genome.wustl.edu 37 2 152316615 152316616 + Frame_Shift_Ins INS - - A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152316615 152316616 - A INS RIF1 ENST00000243326 human ensembl 70_37 +1 known frame_shift_ins c.3057_3058 p.M1019fs 0.455:0.405 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RIF1 55183 genome.wustl.edu 37 2 152316618 152316618 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152316618 152316618 G A SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.3060 p.M1020I 0.413 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RILPL2 196383 genome.wustl.edu 37 12 123920680 123920680 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 123920680 123920680 G A SNP RILPL2 ENST00000280571 human ensembl 70_37 -1 known silent c.288 p.L96 0.000 NULL pfam_RILP - no_errors RILPL2 HGNC RIMBP3 85376 genome.wustl.edu 37 22 20457822 20457822 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 20457822 20457822 C T SNP RIMBP3 ENST00000426804 human ensembl 70_37 -1 known silent c.3480 p.Q1160 1.000 superfamily_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC RIMS2 9699 genome.wustl.edu 37 8 104513169 104513169 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 104513169 104513169 C G SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known missense c.55 p.Q19E 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 RIMS2 HGNC RINL 126432 genome.wustl.edu 37 19 39361534 39361534 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39361534 39361534 C T SNP RINL ENST00000591812 human ensembl 70_37 -1 known missense c.700 p.E234K 0.038 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors RINL HGNC RIPK1 8737 genome.wustl.edu 37 6 3077045 3077045 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 3077045 3077045 C G SNP RIPK1 ENST00000490396 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RIPK1 HGNC RIPK1 8737 genome.wustl.edu 37 6 3081215 3081215 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 3081215 3081215 G C SNP RIPK1 ENST00000259808 human ensembl 70_37 +1 known missense c.324 p.M108I 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC RIPK3 11035 genome.wustl.edu 37 14 24807137 24807137 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24807137 24807137 C T SNP RIPK3 ENST00000216274 human ensembl 70_37 -1 known silent c.774 p.L258 0.393 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC RMI2 116028 genome.wustl.edu 37 16 11410844 11410844 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11410844 11410844 G A SNP RMI2 ENST00000572992 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RMI2 HGNC RNASE10 338879 genome.wustl.edu 37 14 20978826 20978826 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 20978826 20978826 G A SNP RNASE10 ENST00000328444 human ensembl 70_37 +1 known missense c.196 p.E66K 0.052 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC RND2 8153 genome.wustl.edu 37 17 41177413 41177413 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 41177413 41177413 G C SNP RND2 ENST00000544533 human ensembl 70_37 +1 known missense c.49 p.E17Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC RNF103 7844 genome.wustl.edu 37 2 86831217 86831217 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 86831217 86831217 C G SNP RNF103 ENST00000237455 human ensembl 70_37 -1 known missense c.1807 p.D603H 0.980 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC RNF112 7732 genome.wustl.edu 37 17 19318403 19318403 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19318403 19318403 G C SNP RNF112 ENST00000453070 human ensembl 70_37 +1 known silent c.828 p.L276 0.012 NULL pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC RNF126P1 376412 genome.wustl.edu 37 17 55123001 55123001 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 55123001 55123001 G A SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors RNF126P1 HGNC RNF168 165918 genome.wustl.edu 37 3 196210737 196210737 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196210737 196210737 G A SNP RNF168 ENST00000318037 human ensembl 70_37 -1 known missense c.584 p.S195L 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC RNF17 56163 genome.wustl.edu 37 13 25442795 25442795 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 25442795 25442795 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.4219 p.L1407V 0.993 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC RNF19A 25897 genome.wustl.edu 37 8 101270981 101270981 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 101270981 101270981 G C SNP RNF19A ENST00000341084 human ensembl 70_37 -1 known missense c.2320 p.Q774E 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC RNF216 54476 genome.wustl.edu 37 7 5800731 5800731 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5800731 5800731 G C SNP RNF216 ENST00000476345 human ensembl 70_37 -1 known rna NULL NULL 0.099 - - - no_errors RNF216 HGNC RNF220 55182 genome.wustl.edu 37 1 44878382 44878382 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44878382 44878382 C G SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known missense c.613 p.R205G 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC RNF40 9810 genome.wustl.edu 37 16 30777520 30777520 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30777520 30777520 G C SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1030 p.E344Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RNF40 9810 genome.wustl.edu 37 16 30778082 30778082 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30778082 30778082 G A SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known silent c.1314 p.Q438 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RNF40 9810 genome.wustl.edu 37 16 30778146 30778146 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30778146 30778146 G A SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1378 p.E460K 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RNF40 9810 genome.wustl.edu 37 16 30779455 30779455 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30779455 30779455 C G SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1583 p.S528C 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RNF41 10193 genome.wustl.edu 37 12 56600398 56600398 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56600398 56600398 C G SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.787 p.E263Q 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC RNGTT 8732 genome.wustl.edu 37 6 89614556 89614556 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 89614556 89614556 G C SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known missense c.562 p.L188V 0.045 pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC RNMTL1 55178 genome.wustl.edu 37 17 685696 685696 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 685696 685696 G C SNP RNMTL1 ENST00000304478 human ensembl 70_37 +1 known silent c.78 p.A26 0.220 NULL pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC RNPEP 6051 genome.wustl.edu 37 1 201973512 201973512 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201973512 201973512 C G SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known missense c.1682 p.P561R 0.956 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ROBO1 6091 genome.wustl.edu 37 3 78680360 78680360 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 78680360 78680360 G C SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.3577 p.P1193A 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC RORC 6097 genome.wustl.edu 37 1 151780038 151780038 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151780038 151780038 G C SNP RORC ENST00000392697 human ensembl 70_37 -1 known silent c.1629 p.L543 0.998 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC RPAP1 26015 genome.wustl.edu 37 15 41812581 41812581 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41812581 41812581 G A SNP RPAP1 ENST00000562303 human ensembl 70_37 -1 known missense c.3803 p.S1268F 0.046 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC RPAP1 26015 genome.wustl.edu 37 15 41812658 41812658 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41812658 41812658 G A SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known silent c.3726 p.V1242 0.998 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21756215 21756215 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21756215 21756215 C G SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known nonsense c.80 p.S27* 0.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21771605 21771605 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21771605 21771605 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.703 p.E235K 0.998 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21780094 21780094 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21780094 21780094 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1042 p.E348K 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPL32P3 132241 genome.wustl.edu 37 3 129111991 129111991 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 129111991 129111991 C G SNP RPL32P3 ENST00000514355 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RPL32P3 HGNC RPL7A 6130 genome.wustl.edu 37 9 136216849 136216849 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136216849 136216849 G A SNP RPL7A ENST00000323345 human ensembl 70_37 +1 known silent c.357 p.E119 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC RPN1 6184 genome.wustl.edu 37 3 128341190 128341190 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128341190 128341190 G C SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known silent c.1458 p.V486 1.000 NULL pfam_Ribophorin_I - no_errors RPN1 HGNC RPN1 6184 genome.wustl.edu 37 3 128345602 128345602 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128345602 128345602 C T SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known silent c.1110 p.V370 1.000 pfam_Ribophorin_I pfam_Ribophorin_I - no_errors RPN1 HGNC RPS13 6207 genome.wustl.edu 37 11 17097005 17097005 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 17097005 17097005 C G SNP RPS13 ENST00000525634 human ensembl 70_37 -1 known missense c.317 p.R106T 1.000 pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC RPS19 6223 genome.wustl.edu 37 19 42365220 42365220 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 42365220 42365220 C A SNP RPS19 ENST00000593863 human ensembl 70_37 +1 known silent c.111 p.V37 1.000 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC RPS19BP1 91582 genome.wustl.edu 37 22 39928446 39928446 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 39928446 39928446 C G SNP RPS19BP1 ENST00000334678 human ensembl 70_37 -1 known missense c.135 p.Q45H 0.944 NULL prints_Active_regulator_of_SIRT1 - no_errors RPS19BP1 HGNC RPS2 6187 genome.wustl.edu 37 16 2012214 2012214 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2012214 2012214 C T SNP RPS2 ENST00000343262 human ensembl 70_37 -1 known nonsense c.767 p.W256* 1.000 pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Ribosomal_S5_euk/arc pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc - no_errors RPS2 HGNC RPS6KB1 6198 genome.wustl.edu 37 17 58011881 58011881 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 58011881 58011881 G A SNP RPS6KB1 ENST00000225577 human ensembl 70_37 +1 known missense c.866 p.G289E 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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB1 HGNC RPSAP58 388524 genome.wustl.edu 37 19 24010639 24010639 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 24010639 24010639 G A SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known missense c.676 p.E226K 1.000 NULL pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC RPTOR 57521 genome.wustl.edu 37 17 78866583 78866583 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 78866583 78866583 C T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.2156 p.S719F 0.992 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC RPUSD3 285367 genome.wustl.edu 37 3 9882239 9882239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9882239 9882239 C G SNP RPUSD3 ENST00000383820 human ensembl 70_37 -1 known missense c.577 p.E193Q 0.264 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD3 HGNC RREB1 6239 genome.wustl.edu 37 6 7189489 7189489 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 7189489 7189489 C G SNP RREB1 ENST00000379938 human ensembl 70_37 +1 known missense c.359 p.S120C 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC RRM1 6240 genome.wustl.edu 37 11 4159525 4159525 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 4159525 4159525 C G SNP RRM1 ENST00000300738 human ensembl 70_37 +1 known nonsense c.2291 p.S764* 0.103 NULL pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC RRP12 23223 genome.wustl.edu 37 10 99125952 99125952 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 99125952 99125952 G C SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.3430 p.H1144D 1.000 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC RRP7B 91695 genome.wustl.edu 37 22 42970720 42970720 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 42970720 42970720 C G SNP RRP7B ENST00000357802 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RRP7B HGNC RS1 6247 genome.wustl.edu 37 X 18660271 18660271 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 18660271 18660271 G C SNP RS1 ENST00000379984 human ensembl 70_37 -1 known missense c.528 p.F176L 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC RSG1 79363 genome.wustl.edu 37 1 16558560 16558560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16558560 16558560 C G SNP RSG1 ENST00000375599 human ensembl 70_37 -1 known missense c.760 p.E254Q 0.140 NULL pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase - no_errors RSG1 HGNC RSPO2 340419 genome.wustl.edu 37 8 108913363 108913363 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 108913363 108913363 C T SNP RSPO2 ENST00000276659 human ensembl 70_37 -1 known silent c.672 p.L224 1.000 NULL superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC RTBDN 83546 genome.wustl.edu 37 19 12936535 12936535 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12936535 12936535 G A SNP RTBDN ENST00000322912 human ensembl 70_37 -1 known silent c.771 p.S257 1.000 NULL pfam_Folate_rcpt-like - no_errors RTBDN HGNC RTN3 10313 genome.wustl.edu 37 11 63487457 63487457 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 63487457 63487457 G C SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.1483 p.D495H 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC RTN4RL1 146760 genome.wustl.edu 37 17 1840862 1840862 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 1840862 1840862 G C SNP RTN4RL1 ENST00000331238 human ensembl 70_37 -1 known missense c.254 p.S85W 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 RTN4RL1 HGNC RTTN 25914 genome.wustl.edu 37 18 67864892 67864892 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 67864892 67864892 C T SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.661 p.E221K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC RUSC1 23623 genome.wustl.edu 37 1 155296726 155296726 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155296726 155296726 C G SNP RUSC1 ENST00000368352 human ensembl 70_37 +1 known silent c.2217 p.V739 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC RYR1 6261 genome.wustl.edu 37 19 39055628 39055628 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39055628 39055628 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.12654 p.F4218 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR2 6262 genome.wustl.edu 37 1 237617847 237617847 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 237617847 237617847 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.1443 p.K481 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR2 6262 genome.wustl.edu 37 1 237947564 237947564 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 237947564 237947564 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.12570 p.E4190 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC S100PBP 64766 genome.wustl.edu 37 1 33293677 33293677 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33293677 33293677 G C SNP S100PBP ENST00000373475 human ensembl 70_37 +1 known missense c.915 p.K305N 0.833 NULL NULL - no_errors S100PBP HGNC SAFB 6294 genome.wustl.edu 37 19 5641634 5641634 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 5641634 5641634 G C SNP SAFB ENST00000588852 human ensembl 70_37 +1 known missense c.304 p.D102H 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC SAMD12 401474 genome.wustl.edu 37 8 119391817 119391817 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 119391817 119391817 G C SNP SAMD12 ENST00000314727 human ensembl 70_37 -1 known missense c.445 p.L149V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD12 HGNC SAMSN1 64092 genome.wustl.edu 37 21 15884885 15884885 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 15884885 15884885 C G SNP SAMSN1 ENST00000400566 human ensembl 70_37 -1 known missense c.289 p.D97H 0.996 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC SARS2 54938 genome.wustl.edu 37 19 39408399 39408399 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39408399 39408399 C G SNP SARS2 ENST00000600042 human ensembl 70_37 -1 known missense c.1131 p.Q377H 1.000 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,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 SART1 9092 genome.wustl.edu 37 11 65733421 65733421 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65733421 65733421 G A SNP SART1 ENST00000312397 human ensembl 70_37 +1 known missense c.802 p.E268K 0.997 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC SART1 9092 genome.wustl.edu 37 11 65735054 65735054 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65735054 65735054 G C SNP SART1 ENST00000312397 human ensembl 70_37 +1 known missense c.1426 p.E476Q 0.989 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC SART3 9733 genome.wustl.edu 37 12 108923992 108923992 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 108923992 108923992 C G SNP SART3 ENST00000228284 human ensembl 70_37 -1 known missense c.1842 p.K614N 0.988 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC SASH1 23328 genome.wustl.edu 37 6 148855021 148855021 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 148855021 148855021 G A SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.1849 p.E617K 0.999 superfamily_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC SBF1 6305 genome.wustl.edu 37 22 50903265 50903265 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 50903265 50903265 C G SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.1414 p.E472Q 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC SBF2 81846 genome.wustl.edu 37 11 9851041 9851041 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 9851041 9851041 G C SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known missense c.3655 p.P1219A 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC SBF2 81846 genome.wustl.edu 37 11 9879898 9879898 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 9879898 9879898 C T SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known missense c.1975 p.D659N 1.000 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC SCAMP3 10067 genome.wustl.edu 37 1 155230175 155230175 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155230175 155230175 C G SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known missense c.334 p.E112Q 1.000 NULL pfam_SCAMP - no_errors SCAMP3 HGNC SCAND3 114821 genome.wustl.edu 37 6 28543884 28543884 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28543884 28543884 G C SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known missense c.598 p.Q200E 0.811 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC SCARF2 91179 genome.wustl.edu 37 22 20786051 20786051 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 20786051 20786051 G C SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known missense c.315 p.F105L 1.000 smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC SCARNA13 677768 genome.wustl.edu 37 14 95999781 95999781 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 95999781 95999781 G A SNP SCARNA13 ENST00000516672 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA13 HGNC SCG5 6447 genome.wustl.edu 37 15 32983947 32983947 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 32983947 32983947 G A SNP SCG5 ENST00000300175 human ensembl 70_37 +1 known missense c.526 p.E176K 1.000 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC SCIN 85477 genome.wustl.edu 37 7 12675747 12675747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 12675747 12675747 G C SNP SCIN ENST00000297029 human ensembl 70_37 +1 known missense c.1397 p.G466A 0.993 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors SCIN HGNC SCN3A 6328 genome.wustl.edu 37 2 165947650 165947650 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 165947650 165947650 G C SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.5013 p.I1671M 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC SCN9A 6335 genome.wustl.edu 37 2 167141147 167141147 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167141147 167141147 C G SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.1793 p.R598P 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC SCN9A 6335 genome.wustl.edu 37 2 167142954 167142954 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167142954 167142954 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known silent c.1497 p.E499 0.999 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC SCN9A 6335 genome.wustl.edu 37 2 167143087 167143087 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167143087 167143087 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.1364 p.R455K 0.875 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC SCN9A 6335 genome.wustl.edu 37 2 167143093 167143093 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167143093 167143093 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.1358 p.R453K 0.830 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC SCNN1A 6337 genome.wustl.edu 37 12 6457203 6457203 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6457203 6457203 G A SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known missense c.1912 p.H638Y 0.017 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC SCPEP1 59342 genome.wustl.edu 37 17 55065599 55065599 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 55065599 55065599 C G SNP SCPEP1 ENST00000262288 human ensembl 70_37 +1 known nonsense c.494 p.S165* 1.000 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC SCPEP1 59342 genome.wustl.edu 37 17 55072350 55072350 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 55072350 55072350 C A SNP SCPEP1 ENST00000572591 human ensembl 70_37 +1 known nonsense c.357 p.C119* 1.000 NULL pfam_Peptidase_S10 - no_errors SCPEP1 HGNC SCRN3 79634 genome.wustl.edu 37 2 175260629 175260629 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 175260629 175260629 G C SNP SCRN3 ENST00000488349 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors SCRN3 HGNC SDCCAG8 10806 genome.wustl.edu 37 1 243507589 243507589 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 243507589 243507589 G C SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known missense c.1429 p.E477Q 1.000 NULL NULL - no_errors SDCCAG8 HGNC SDHA 6389 genome.wustl.edu 37 5 228353 228353 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 228353 228353 G C SNP SDHA ENST00000264932 human ensembl 70_37 +1 known silent c.675 p.L225 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC SEC23B 10483 genome.wustl.edu 37 20 18492926 18492926 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 18492926 18492926 G C SNP SEC23B ENST00000262544 human ensembl 70_37 +1 known missense c.279 p.Q93H 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC SEC23IP 11196 genome.wustl.edu 37 10 121680416 121680416 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 121680416 121680416 G C SNP SEC23IP ENST00000369075 human ensembl 70_37 +1 known missense c.2041 p.D681H 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC SEMA4F 10505 genome.wustl.edu 37 2 74902651 74902651 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 74902651 74902651 G C SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known splice_site c.1373-1 e11-1 1.000 - - - no_errors SEMA4F HGNC SENP2 59343 genome.wustl.edu 37 3 185344103 185344103 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 185344103 185344103 G C SNP SENP2 ENST00000296257 human ensembl 70_37 +1 known silent c.1629 p.L543 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC SENP5 205564 genome.wustl.edu 37 3 196612055 196612055 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196612055 196612055 G C SNP SENP5 ENST00000323460 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC SEPT12 124404 genome.wustl.edu 37 16 4827818 4827818 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4827818 4827818 C T SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known missense c.1057 p.D353N 0.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC SEPT12 124404 genome.wustl.edu 37 16 4835864 4835864 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4835864 4835864 C A SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known silent c.318 p.L106 1.000 pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC SERF2 10169 genome.wustl.edu 37 15 44086132 44086132 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44086132 44086132 C G SNP SERF2 ENST00000409960 human ensembl 70_37 +1 putative missense c.475 p.Q159E 1.000 NULL pfam_Uncharacterised_SERF - no_errors SERF2 HGNC SERF2 10169 genome.wustl.edu 37 15 44092743 44092743 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44092743 44092743 C T SNP SERF2 ENST00000594896 human ensembl 70_37 +1 known missense c.85 p.P29S 0.057 NULL NULL - no_errors SERF2 HGNC SERINC2 347735 genome.wustl.edu 37 1 31897655 31897655 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 31897655 31897655 C G SNP SERINC2 ENST00000373710 human ensembl 70_37 +1 known missense c.354 p.F118L 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC SERPINB10 5273 genome.wustl.edu 37 18 61597293 61597293 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 61597293 61597293 C T SNP SERPINB10 ENST00000238508 human ensembl 70_37 +1 known missense c.505 p.L169F 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC SERPINB8 5271 genome.wustl.edu 37 18 61649015 61649015 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 61649015 61649015 G A SNP SERPINB8 ENST00000353706 human ensembl 70_37 +1 known missense c.367 p.E123K 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC SERPINI1 5274 genome.wustl.edu 37 3 167512530 167512530 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 167512530 167512530 C G SNP SERPINI1 ENST00000295777 human ensembl 70_37 +1 known missense c.799 p.L267V 0.982 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC SESN3 143686 genome.wustl.edu 37 11 94908718 94908718 + Nonsense_Mutation SNP T T A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94908718 94908718 T A SNP SESN3 ENST00000536441 human ensembl 70_37 -1 known nonsense c.1336 p.R446* 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC SETBP1 26040 genome.wustl.edu 37 18 42532104 42532104 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 42532104 42532104 C G SNP SETBP1 ENST00000282030 human ensembl 70_37 +1 known silent c.2799 p.L933 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC SETD5 55209 genome.wustl.edu 37 3 9477417 9477417 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9477417 9477417 G C SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known missense c.394 p.D132H 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC SETD6 79918 genome.wustl.edu 37 16 58550511 58550511 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 58550511 58550511 C G SNP SETD6 ENST00000219315 human ensembl 70_37 +1 known silent c.606 p.L202 0.994 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC SETD9 133383 genome.wustl.edu 37 5 56212732 56212732 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 56212732 56212732 C T SNP SETD9 ENST00000463805 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SETD9 HGNC SETD9 133383 genome.wustl.edu 37 5 56212740 56212740 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 56212740 56212740 C T SNP SETD9 ENST00000463805 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors SETD9 HGNC SETMAR 6419 genome.wustl.edu 37 3 4354762 4354762 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 4354762 4354762 G A SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.337 p.E113K 0.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC SEZ6L2 26470 genome.wustl.edu 37 16 29883600 29883600 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29883600 29883600 G A SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known nonsense c.2611 p.Q871* 0.996 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC SFPQ 6421 genome.wustl.edu 37 1 35650092 35650092 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 35650092 35650092 C G SNP SFPQ ENST00000357214 human ensembl 70_37 -1 known missense c.2089 p.E697Q 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC SFSWAP 6433 genome.wustl.edu 37 12 132250835 132250835 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 132250835 132250835 G C SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.2124 p.E708D 0.118 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC SGK1 6446 genome.wustl.edu 37 6 134498933 134498933 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 134498933 134498933 C G SNP SGK1 ENST00000528577 human ensembl 70_37 -1 known missense c.28 p.E10Q 0.038 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK1 HGNC SGSM1 129049 genome.wustl.edu 37 22 25264726 25264726 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 25264726 25264726 C G SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.1195 p.Q399E 0.997 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SGSM1 129049 genome.wustl.edu 37 22 25280109 25280109 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 25280109 25280109 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.1750 p.D584N 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SGTB 54557 genome.wustl.edu 37 5 64966100 64966100 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64966100 64966100 G A SNP SGTB ENST00000381007 human ensembl 70_37 -1 known silent c.888 p.F296 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC SGTB 54557 genome.wustl.edu 37 5 64976529 64976529 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64976529 64976529 G A SNP SGTB ENST00000381007 human ensembl 70_37 -1 known missense c.572 p.S191L 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC SH2D5 400745 genome.wustl.edu 37 1 21048338 21048338 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 21048338 21048338 G C SNP SH2D5 ENST00000444387 human ensembl 70_37 -1 known missense c.1219 p.L407V 0.093 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SH2D5 HGNC SH3GL1 6455 genome.wustl.edu 37 19 4362348 4362348 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4362348 4362348 G C SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known missense c.888 p.I296M 0.701 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC SH3GL1P1 6458 genome.wustl.edu 37 17 30367387 30367387 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 30367387 30367387 G C SNP SH3GL1P1 ENST00000582640 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors SH3GL1P1 HGNC SH3KBP1 30011 genome.wustl.edu 37 X 19764468 19764468 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 19764468 19764468 G C SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known missense c.254 p.S85C 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC SH3TC1 54436 genome.wustl.edu 37 4 8233776 8233776 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 8233776 8233776 C G SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.3024 p.I1008M 1.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC SHH 6469 genome.wustl.edu 37 7 155604778 155604778 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 155604778 155604778 G C SNP SHH ENST00000297261 human ensembl 70_37 -1 known silent c.39 p.V13 1.000 pirsf_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog - no_errors SHH HGNC SHOC2 8036 genome.wustl.edu 37 10 112724698 112724698 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112724698 112724698 C T SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known silent c.582 p.L194 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC SHROOM1 134549 genome.wustl.edu 37 5 132161162 132161162 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 132161162 132161162 G C SNP SHROOM1 ENST00000378679 human ensembl 70_37 -1 known nonsense c.671 p.S224* 0.977 pfam_ASD1 pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC SIGLEC17P 284367 genome.wustl.edu 37 19 51670960 51670960 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51670960 51670960 C G SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC SIGLEC5 8778 genome.wustl.edu 37 19 52115563 52115563 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52115563 52115563 G C SNP SIGLEC5 ENST00000222107 human ensembl 70_37 -1 known missense c.1577 p.S526C 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC SIGLEC7 27036 genome.wustl.edu 37 19 51645837 51645837 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51645837 51645837 G C SNP SIGLEC7 ENST00000317643 human ensembl 70_37 +1 known missense c.211 p.D71H 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC SIM1 6492 genome.wustl.edu 37 6 100911253 100911253 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 100911253 100911253 G A SNP SIM1 ENST00000262901 human ensembl 70_37 -1 known missense c.92 p.S31L 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM1 HGNC SIN3B 23309 genome.wustl.edu 37 19 16986961 16986961 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 16986961 16986961 C T SNP SIN3B ENST00000379803 human ensembl 70_37 +1 known silent c.2784 p.S928 0.950 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72054767 72054767 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 72054767 72054767 G A SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.178 p.E60K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SIRPA 140885 genome.wustl.edu 37 20 1902137 1902137 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 1902137 1902137 G C SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known missense c.533 p.R178T 0.995 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC SIX4 51804 genome.wustl.edu 37 14 61190355 61190355 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 61190355 61190355 C G SNP SIX4 ENST00000216513 human ensembl 70_37 -1 known missense c.438 p.E146D 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX4 HGNC SIX5 147912 genome.wustl.edu 37 19 46270163 46270163 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46270163 46270163 C G SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.1054 p.E352Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SKIL 6498 genome.wustl.edu 37 3 170079084 170079084 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170079084 170079084 C G SNP SKIL ENST00000259119 human ensembl 70_37 +1 known nonsense c.965 p.S322* 1.000 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC SKIV2L2 23517 genome.wustl.edu 37 5 54706374 54706374 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 54706374 54706374 G C SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known missense c.2668 p.E890Q 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC SKIV2L2 23517 genome.wustl.edu 37 5 54706386 54706386 + Missense_Mutation SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 54706386 54706386 A C SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known missense c.2680 p.N894H 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC SLAMF1 6504 genome.wustl.edu 37 1 160604405 160604405 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160604405 160604405 G C SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known nonsense c.698 p.S233* 0.786 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC SLAMF1 6504 genome.wustl.edu 37 1 160616718 160616718 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160616718 160616718 G A SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known silent c.18 p.L6 0.000 pfam_Sig_lymph_act_molc_N pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC SLAMF8 56833 genome.wustl.edu 37 1 159799975 159799975 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159799975 159799975 G C SNP SLAMF8 ENST00000289707 human ensembl 70_37 +1 known missense c.360 p.K120N 0.977 NULL pfscan_Ig-like - no_errors SLAMF8 HGNC SLC10A4 201780 genome.wustl.edu 37 4 48490485 48490485 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48490485 48490485 C G SNP SLC10A4 ENST00000273861 human ensembl 70_37 +1 known missense c.843 p.F281L 1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC SLC15A2 6565 genome.wustl.edu 37 3 121648193 121648193 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121648193 121648193 G C SNP SLC15A2 ENST00000489711 human ensembl 70_37 +1 known silent c.1551 p.V517 0.739 tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC SLC16A5 9121 genome.wustl.edu 37 17 73101990 73101990 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73101990 73101990 C T SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known silent c.1380 p.R460 0.006 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC SLC1A7 6512 genome.wustl.edu 37 1 53600054 53600054 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53600054 53600054 C T SNP SLC1A7 ENST00000371494 human ensembl 70_37 -1 known silent c.183 p.L61 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC SLC22A20 440044 genome.wustl.edu 37 11 64993248 64993248 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64993248 64993248 C T SNP SLC22A20 ENST00000525264 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC22A20 HGNC SLC25A12 8604 genome.wustl.edu 37 2 172693632 172693632 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172693632 172693632 G A SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known missense c.611 p.S204L 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC SLC25A30 253512 genome.wustl.edu 37 13 45971465 45971465 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 45971465 45971465 C T SNP SLC25A30 ENST00000519676 human ensembl 70_37 -1 known silent c.762 p.K254 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,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC SLC25A36 55186 genome.wustl.edu 37 3 140692697 140692697 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 140692697 140692697 G C SNP SLC25A36 ENST00000324194 human ensembl 70_37 +1 known missense c.592 p.E198Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC SLC26A4 5172 genome.wustl.edu 37 7 107312607 107312607 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 107312607 107312607 C T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known missense c.329 p.A110V 0.998 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC SLC26A4 5172 genome.wustl.edu 37 7 107342344 107342344 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 107342344 107342344 G A SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known missense c.1876 p.E626K 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC SLC26A7 115111 genome.wustl.edu 37 8 92375748 92375748 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 92375748 92375748 G A SNP SLC26A7 ENST00000309536 human ensembl 70_37 +1 known silent c.1470 p.V490 1.000 superfamily_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC SLC27A5 10998 genome.wustl.edu 37 19 59010559 59010559 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 59010559 59010559 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.1696 p.E566K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC SLC2A1 6513 genome.wustl.edu 37 1 43395578 43395578 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 43395578 43395578 G C SNP SLC2A1 ENST00000426263 human ensembl 70_37 -1 known silent c.645 p.L215 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC SLC2A2 6514 genome.wustl.edu 37 3 170716153 170716153 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170716153 170716153 C G SNP SLC2A2 ENST00000314251 human ensembl 70_37 -1 known missense c.1203 p.M401I 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC SLC2A6 11182 genome.wustl.edu 37 9 136338667 136338667 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136338667 136338667 G A SNP SLC2A6 ENST00000371899 human ensembl 70_37 -1 known silent c.1092 p.P364 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC SLC30A4 7782 genome.wustl.edu 37 15 45814223 45814223 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 45814223 45814223 C T SNP SLC30A4 ENST00000261867 human ensembl 70_37 -1 known silent c.330 p.V110 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC SLC35A3 23443 genome.wustl.edu 37 1 100483336 100483336 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 100483336 100483336 C T SNP SLC35A3 ENST00000370153 human ensembl 70_37 +1 known silent c.978 p.I326 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC SLC35F5 80255 genome.wustl.edu 37 2 114513965 114513965 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 114513965 114513965 G A SNP SLC35F5 ENST00000245680 human ensembl 70_37 -1 known missense c.22 p.R8C 1.000 NULL pfam_DMT - no_errors SLC35F5 HGNC SLC47A2 146802 genome.wustl.edu 37 17 19605921 19605921 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19605921 19605921 G C SNP SLC47A2 ENST00000325411 human ensembl 70_37 -1 known missense c.1269 p.I423M 0.919 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC SLC4A1 6521 genome.wustl.edu 37 17 42337808 42337808 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 42337808 42337808 C G SNP SLC4A1 ENST00000262418 human ensembl 70_37 -1 known missense c.449 p.R150P 1.000 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC SLC4A7 9497 genome.wustl.edu 37 3 27493983 27493983 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 27493983 27493983 C T SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known missense c.67 p.D23N 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC SLC5A12 159963 genome.wustl.edu 37 11 26705375 26705375 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 26705375 26705375 G T SNP SLC5A12 ENST00000527405 human ensembl 70_37 -1 known nonsense c.677 p.S226* 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A12 HGNC SLC6A5 9152 genome.wustl.edu 37 11 20623184 20623184 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 20623184 20623184 G A SNP SLC6A5 ENST00000525748 human ensembl 70_37 +1 known silent c.513 p.P171 0.996 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC SLC6A5 9152 genome.wustl.edu 37 11 20676353 20676353 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 20676353 20676353 G C SNP SLC6A5 ENST00000525748 human ensembl 70_37 +1 known missense c.2333 p.G778A 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC SLC6A8 6535 genome.wustl.edu 37 X 152958162 152958162 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 152958162 152958162 C G SNP SLC6A8 ENST00000485324 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SLC6A8 HGNC SLC7A10 56301 genome.wustl.edu 37 19 33703233 33703233 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 33703233 33703233 G A SNP SLC7A10 ENST00000253188 human ensembl 70_37 -1 known silent c.753 p.L251 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC SLC7A6OS 84138 genome.wustl.edu 37 16 68344279 68344279 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 68344279 68344279 C G SNP SLC7A6OS ENST00000263997 human ensembl 70_37 -1 known missense c.430 p.E144Q 1.000 NULL NULL - no_errors SLC7A6OS HGNC SLC8A2 6543 genome.wustl.edu 37 19 47941204 47941204 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 47941204 47941204 C T SNP SLC8A2 ENST00000236877 human ensembl 70_37 -1 known missense c.1912 p.E638K 0.997 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC SLC9A9 285195 genome.wustl.edu 37 3 143515691 143515691 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 143515691 143515691 G C SNP SLC9A9 ENST00000316549 human ensembl 70_37 -1 known missense c.433 p.H145D 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC SLFN12L 100506736 genome.wustl.edu 37 17 33806930 33806930 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33806930 33806930 G C SNP SLFN12L ENST00000449046 human ensembl 70_37 -1 known missense c.392 p.S131C 0.006 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC SLIT3 6586 genome.wustl.edu 37 5 168151429 168151429 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 168151429 168151429 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.2331 p.L777 1.000 smart_Leu-rich_rpt_typical-subtyp 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 SLMAP 7871 genome.wustl.edu 37 3 57847784 57847784 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 57847784 57847784 G C SNP SLMAP ENST00000428312 human ensembl 70_37 +1 known missense c.937 p.E313Q 1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC SLX4 84464 genome.wustl.edu 37 16 3639021 3639021 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3639021 3639021 C T SNP SLX4 ENST00000294008 human ensembl 70_37 -1 known missense c.4618 p.E1540K 0.001 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC SMARCA5 8467 genome.wustl.edu 37 4 144456044 144456044 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 144456044 144456044 G C SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known missense c.1195 p.D399H 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC SMARCA5 8467 genome.wustl.edu 37 4 144456055 144456055 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 144456055 144456055 G C SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known missense c.1206 p.K402N 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC SMARCC2 6601 genome.wustl.edu 37 12 56563372 56563372 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56563372 56563372 C T SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.2563 p.E855K 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SMARCC2 6601 genome.wustl.edu 37 12 56563391 56563391 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56563391 56563391 C G SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.2544 p.K848N 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SMC4 10051 genome.wustl.edu 37 3 160146645 160146645 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 160146645 160146645 G A SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.2710 p.D904N 1.000 pfam_RecF/RecN/SMC,superfamily_Prefoldin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC SMC6 79677 genome.wustl.edu 37 2 17888515 17888515 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 17888515 17888515 G C SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.2055 p.F685L 0.772 NULL NULL - no_errors SMC6 HGNC SMCR8 140775 genome.wustl.edu 37 17 18219287 18219287 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18219287 18219287 G C SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known missense c.184 p.E62Q 0.999 NULL pfam_Folliculin - no_errors SMCR8 HGNC SMCR8 140775 genome.wustl.edu 37 17 18221437 18221437 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18221437 18221437 G C SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known missense c.2334 p.Q778H 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC SMG1P1 641298 genome.wustl.edu 37 16 22448669 22448669 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 22448669 22448669 G A SNP SMG1P1 ENST00000446662 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SMG1P1 HGNC SMG6 23293 genome.wustl.edu 37 17 2196193 2196193 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 2196193 2196193 C T SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.2230 p.D744N 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC SMG8 55181 genome.wustl.edu 37 17 57287808 57287808 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 57287808 57287808 C T SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known silent c.396 p.S132 0.905 NULL pfam_Smg8/Smg9 - no_errors SMG8 HGNC SMIM2 79024 genome.wustl.edu 37 13 44734786 44734786 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 44734786 44734786 C G SNP SMIM2 ENST00000400419 human ensembl 70_37 -1 known missense c.206 p.R69T 0.984 NULL NULL - no_errors SMIM2 HGNC SMPD1 6609 genome.wustl.edu 37 11 6412652 6412652 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6412652 6412652 C G SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known missense c.357 p.I119M 0.047 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC SMTNL1 219537 genome.wustl.edu 37 11 57310724 57310724 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57310724 57310724 G A SNP SMTNL1 ENST00000457912 human ensembl 70_37 +1 known silent c.663 p.Q221 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC SMTNL1 219537 genome.wustl.edu 37 11 57310740 57310740 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57310740 57310740 G C SNP SMTNL1 ENST00000457912 human ensembl 70_37 +1 known missense c.679 p.D227H 0.010 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC SMURF2 64750 genome.wustl.edu 37 17 62542010 62542010 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62542010 62542010 G C SNP SMURF2 ENST00000262435 human ensembl 70_37 -1 known missense c.2203 p.L735V 1.000 pfam_HECT,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 - no_errors SMURF2 HGNC SNAP47 116841 genome.wustl.edu 37 1 227921486 227921486 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 227921486 227921486 C G SNP SNAP47 ENST00000480265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAP47 HGNC SND1 27044 genome.wustl.edu 37 7 127343372 127343372 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 127343372 127343372 C T SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.835 p.H279Y 1.000 pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC SNED1 25992 genome.wustl.edu 37 2 241969734 241969734 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 241969734 241969734 G C SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.247 p.E83Q 1.000 NULL pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC SNHG11 128439 genome.wustl.edu 37 20 37075540 37075540 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 37075540 37075540 G A SNP SNHG11 ENST00000359074 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG11 HGNC SNHG5 387066 genome.wustl.edu 37 6 86387171 86387171 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 86387171 86387171 G C SNP SNHG5 ENST00000369605 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG5 HGNC SNORA45 677826 genome.wustl.edu 37 11 8707066 8707066 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 8707066 8707066 C T SNP SNORA45 ENST00000391305 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA45 HGNC SNORA51 677831 genome.wustl.edu 37 20 2635760 2635760 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2635760 2635760 G C SNP SNORA51 ENST00000384696 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA51 HGNC SNORA57 692158 genome.wustl.edu 37 11 62433026 62433026 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62433026 62433026 C T SNP SNORA57 ENST00000383870 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors SNORA57 HGNC SNORA65 26783 genome.wustl.edu 37 9 130210804 130210804 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130210804 130210804 G C SNP SNORA65 ENST00000364432 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA65 HGNC SNORD114-20 767598 genome.wustl.edu 37 14 101447404 101447404 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101447404 101447404 G A SNP SNORD114-20 ENST00000365178 human ensembl 70_37 +1 known rna NULL NULL 0.894 - - - no_errors SNORD114-20 HGNC SNORD3A 780851 genome.wustl.edu 37 17 19091539 19091539 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19091539 19091539 G C SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.714 - - - no_errors SNORD3A HGNC SNRPA1 6627 genome.wustl.edu 37 15 101835311 101835311 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 101835311 101835311 C T SNP SNRPA1 ENST00000254193 human ensembl 70_37 -1 known missense c.73 p.D25N 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC SNTB1 6641 genome.wustl.edu 37 8 121644796 121644796 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 121644796 121644796 G C SNP SNTB1 ENST00000395601 human ensembl 70_37 -1 known missense c.884 p.S295C 0.999 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC SNTG2 54221 genome.wustl.edu 37 2 1251136 1251136 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 1251136 1251136 G A SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.926 p.G309E 0.949 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC SNX11 29916 genome.wustl.edu 37 17 46198670 46198670 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 46198670 46198670 G C SNP SNX11 ENST00000359238 human ensembl 70_37 +1 known missense c.613 p.E205Q 0.002 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC SNX3 8724 genome.wustl.edu 37 6 108582039 108582039 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 108582039 108582039 G A SNP SNX3 ENST00000230085 human ensembl 70_37 -1 known silent c.87 p.L29 0.741 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX3 HGNC SNX32 254122 genome.wustl.edu 37 11 65618550 65618550 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65618550 65618550 G C SNP SNX32 ENST00000308342 human ensembl 70_37 +1 known missense c.628 p.E210Q 0.947 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC SOCS4 122809 genome.wustl.edu 37 14 55510564 55510564 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 55510564 55510564 G C SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.805 p.D269H 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC SOCS7 30837 genome.wustl.edu 37 17 36521234 36521234 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 36521234 36521234 G A SNP SOCS7 ENST00000577233 human ensembl 70_37 +1 known silent c.1002 p.P334 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC SORBS1 10580 genome.wustl.edu 37 10 97096727 97096727 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 97096727 97096727 G A SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known silent c.3190 p.L1064 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC SOS2 6655 genome.wustl.edu 37 14 50626635 50626635 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50626635 50626635 C T SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC SOX11 6664 genome.wustl.edu 37 2 5833067 5833067 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 5833067 5833067 C G SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known missense c.214 p.P72A 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC SOX13 9580 genome.wustl.edu 37 1 204086775 204086775 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 204086775 204086775 C G SNP SOX13 ENST00000367204 human ensembl 70_37 +1 known missense c.715 p.L239V 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX13 HGNC SPAG16 79582 genome.wustl.edu 37 2 214161822 214161822 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 214161822 214161822 G T SNP SPAG16 ENST00000420497 human ensembl 70_37 +1 known missense c.260 p.R87I 0.001 NULL NULL - no_errors SPAG16 HGNC SPAG4 6676 genome.wustl.edu 37 20 34205752 34205752 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34205752 34205752 C G SNP SPAG4 ENST00000374273 human ensembl 70_37 +1 known silent c.528 p.L176 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC SPAG5 10615 genome.wustl.edu 37 17 26911397 26911397 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 26911397 26911397 C T SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.2263 p.E755K 0.998 NULL NULL - no_errors SPAG5 HGNC SPAG6 9576 genome.wustl.edu 37 10 22678157 22678157 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 22678157 22678157 G C SNP SPAG6 ENST00000376603 human ensembl 70_37 +1 known silent c.1149 p.G383 0.869 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC SPAG7 9552 genome.wustl.edu 37 17 4863765 4863765 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4863765 4863765 C G SNP SPAG7 ENST00000206020 human ensembl 70_37 -1 known missense c.231 p.E77D 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd - no_errors SPAG7 HGNC SPATA1 100505741 genome.wustl.edu 37 1 85016205 85016205 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 85016205 85016205 G C SNP SPATA1 ENST00000490879 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC SPATA31D5P 347127 genome.wustl.edu 37 9 84532641 84532641 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 84532641 84532641 C T SNP SPATA31D5P ENST00000527857 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC SPATA6L 55064 genome.wustl.edu 37 9 4622463 4622463 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 4622463 4622463 C G SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known missense c.717 p.L239F 0.000 NULL NULL - no_errors SPATA6L HGNC SPDEF 25803 genome.wustl.edu 37 6 34507169 34507169 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34507169 34507169 C G SNP SPDEF ENST00000374037 human ensembl 70_37 -1 known silent c.687 p.S229 0.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPDEF HGNC SPECC1 92521 genome.wustl.edu 37 17 20107794 20107794 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 20107794 20107794 G A SNP SPECC1 ENST00000261503 human ensembl 70_37 +1 known silent c.432 p.T144 0.998 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC SPEG 10290 genome.wustl.edu 37 2 220353359 220353359 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220353359 220353359 C G SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.7998 p.I2666M 0.986 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC SPEG 10290 genome.wustl.edu 37 2 220357648 220357648 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220357648 220357648 C G SNP SPEG ENST00000485813 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPEG HGNC SPEN 23013 genome.wustl.edu 37 1 16254826 16254826 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16254826 16254826 C A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.2091 p.Y697* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16255242 16255242 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16255242 16255242 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.2507 p.S836* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16256108 16256108 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256108 16256108 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3373 p.E1125Q 0.644 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16256255 16256255 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256255 16256255 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3520 p.E1174K 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16256303 16256303 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256303 16256303 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3568 p.E1190Q 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16256501 16256501 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256501 16256501 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3766 p.E1256K 0.997 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16256546 16256546 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256546 16256546 G T SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.3811 p.E1271* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16256967 16256967 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256967 16256967 G T SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4232 p.R1411I 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16256972 16256972 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256972 16256972 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4237 p.D1413N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16257044 16257044 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257044 16257044 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4309 p.D1437H 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16257220 16257220 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257220 16257220 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4485 p.M1495I 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16257260 16257260 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257260 16257260 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4525 p.D1509N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16257263 16257263 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257263 16257263 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4528 p.D1510N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16257467 16257467 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257467 16257467 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4732 p.E1578Q 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPHK1 8877 genome.wustl.edu 37 17 74381246 74381246 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74381246 74381246 G A SNP SPHK1 ENST00000323374 human ensembl 70_37 +1 known silent c.60 p.P20 0.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC SPHK2 56848 genome.wustl.edu 37 19 49128925 49128925 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 49128925 49128925 G A SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known missense c.3 p.M1I 0.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC SPINK5 11005 genome.wustl.edu 37 5 147510945 147510945 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 147510945 147510945 G A SNP SPINK5 ENST00000359874 human ensembl 70_37 +1 known missense c.3178 p.E1060K 1.000 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC SPO11 23626 genome.wustl.edu 37 20 55917854 55917854 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 55917854 55917854 G C SNP SPO11 ENST00000371263 human ensembl 70_37 +1 known silent c.1029 p.L343 0.998 superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11 pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC SPP1 6696 genome.wustl.edu 37 4 88902690 88902690 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 88902690 88902690 G A SNP SPP1 ENST00000395080 human ensembl 70_37 +1 known missense c.280 p.D94N 0.001 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC SPRR1A 6698 genome.wustl.edu 37 1 152957716 152957716 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152957716 152957716 C T SNP SPRR1A ENST00000307122 human ensembl 70_37 +1 known nonsense c.10 p.Q4* 0.999 NULL pfam_Cornifin - no_errors SPRR1A HGNC SPTAN1 6709 genome.wustl.edu 37 9 131395165 131395165 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131395165 131395165 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known silent c.7239 p.E2413 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SPTBN1 6711 genome.wustl.edu 37 2 54858188 54858188 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 54858188 54858188 G A SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.3004 p.E1002K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42143328 42143328 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 42143328 42143328 G T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.10764 p.L3588 0.228 smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SRC 6714 genome.wustl.edu 37 20 36033164 36033164 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 36033164 36033164 G C SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SRC HGNC SRCIN1 80725 genome.wustl.edu 37 17 36714613 36714613 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 36714613 36714613 G A SNP SRCIN1 ENST00000264659 human ensembl 70_37 -1 known missense c.2051 p.A684V 0.998 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC SRD5A2 6716 genome.wustl.edu 37 2 31751095 31751095 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 31751095 31751095 G C SNP SRD5A2 ENST00000233139 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRD5A2 HGNC SRPX 8406 genome.wustl.edu 37 X 38016209 38016209 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 38016209 38016209 G A SNP SRPX ENST00000378533 human ensembl 70_37 -1 known silent c.1029 p.L343 0.989 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC SRRT 51593 genome.wustl.edu 37 7 100482396 100482396 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100482396 100482396 G C SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.978 p.K326N 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SRSF2 6427 genome.wustl.edu 37 17 74732516 74732516 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74732516 74732516 C G SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known silent c.393 p.R131 0.991 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC SRSF2 6427 genome.wustl.edu 37 17 74732932 74732932 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74732932 74732932 C T SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known missense c.311 p.G104E 0.987 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC SRSF6 6431 genome.wustl.edu 37 20 42089540 42089540 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 42089540 42089540 C G SNP SRSF6 ENST00000244020 human ensembl 70_37 +1 known nonsense c.872 p.S291* 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC SSFA2 6744 genome.wustl.edu 37 2 182780888 182780888 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 182780888 182780888 C G SNP SSFA2 ENST00000431877 human ensembl 70_37 +1 known missense c.2521 p.Q841E 1.000 NULL NULL - no_errors SSFA2 HGNC SSH2 85464 genome.wustl.edu 37 17 27977792 27977792 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27977792 27977792 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known missense c.1025 p.R342Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ST6GAL2 84620 genome.wustl.edu 37 2 107460052 107460052 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 107460052 107460052 C T SNP ST6GAL2 ENST00000361686 human ensembl 70_37 -1 known missense c.382 p.D128N 0.013 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ST6GALNAC5 81849 genome.wustl.edu 37 1 77528829 77528829 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 77528829 77528829 C T SNP ST6GALNAC5 ENST00000477717 human ensembl 70_37 +1 known nonsense c.949 p.Q317* 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ST8SIA3 51046 genome.wustl.edu 37 18 55024207 55024207 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 55024207 55024207 G C SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known silent c.366 p.R122 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC STAB1 23166 genome.wustl.edu 37 3 52549439 52549439 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52549439 52549439 G C SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.3865 p.D1289H 0.535 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC STAG1 10274 genome.wustl.edu 37 3 136323236 136323236 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 136323236 136323236 C G SNP STAG1 ENST00000383202 human ensembl 70_37 -1 known missense c.212 p.R71T 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC STAG2 10735 genome.wustl.edu 37 X 123095675 123095675 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 123095675 123095675 G C SNP STAG2 ENST00000466748 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors STAG2 HGNC STAM 8027 genome.wustl.edu 37 10 17750872 17750872 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 17750872 17750872 C G SNP STAM ENST00000377524 human ensembl 70_37 +1 known missense c.1307 p.S436C 0.996 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC STAP1 26228 genome.wustl.edu 37 4 68447142 68447142 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 68447142 68447142 G C SNP STAP1 ENST00000265404 human ensembl 70_37 +1 known missense c.483 p.E161D 0.973 NULL pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC STARD5 80765 genome.wustl.edu 37 15 81605714 81605714 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 81605714 81605714 G C SNP STARD5 ENST00000302824 human ensembl 70_37 -1 known missense c.525 p.F175L 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD5 HGNC STARD5 80765 genome.wustl.edu 37 15 81611704 81611704 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 81611704 81611704 C T SNP STARD5 ENST00000302824 human ensembl 70_37 -1 known missense c.376 p.E126K 0.976 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD5 HGNC STAT6 6778 genome.wustl.edu 37 12 57490477 57490477 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57490477 57490477 C T SNP STAT6 ENST00000300134 human ensembl 70_37 -1 known missense c.2422 p.E808K 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC STEAP1B 256227 genome.wustl.edu 37 7 22532205 22532205 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 22532205 22532205 C T SNP STEAP1B ENST00000406890 human ensembl 70_37 -1 known nonsense c.684 p.W228* 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC STK38 11329 genome.wustl.edu 37 6 36475283 36475283 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 36475283 36475283 C T SNP STK38 ENST00000229812 human ensembl 70_37 -1 known missense c.766 p.D256N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38 HGNC STK38L 23012 genome.wustl.edu 37 12 27475354 27475354 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 27475354 27475354 C T SNP STK38L ENST00000389032 human ensembl 70_37 +1 known missense c.1361 p.S454F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38L HGNC STRADB 55437 genome.wustl.edu 37 2 202344764 202344764 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 202344764 202344764 G C SNP STRADB ENST00000194530 human ensembl 70_37 +1 known missense c.1123 p.E375Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADB HGNC STRADB 55437 genome.wustl.edu 37 2 202344895 202344895 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 202344895 202344895 C T SNP STRADB ENST00000194530 human ensembl 70_37 +1 known silent c.1254 p.F418 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADB HGNC STXBP4 252983 genome.wustl.edu 37 17 53150329 53150329 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 53150329 53150329 G C SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.1080 p.Q360H 1.000 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC SUDS3 64426 genome.wustl.edu 37 12 118852228 118852228 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 118852228 118852228 C G SNP SUDS3 ENST00000397564 human ensembl 70_37 +1 known nonsense c.980 p.S327* 1.000 NULL pfam_Sds3 - no_errors SUDS3 HGNC SURF2 6835 genome.wustl.edu 37 9 136223814 136223814 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136223814 136223814 G C SNP SURF2 ENST00000371964 human ensembl 70_37 +1 known missense c.103 p.E35Q 1.000 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC SURF2 6835 genome.wustl.edu 37 9 136227994 136227994 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136227994 136227994 C T SNP SURF2 ENST00000371964 human ensembl 70_37 +1 known silent c.750 p.S250 0.004 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC SUSD4 55061 genome.wustl.edu 37 1 223408322 223408322 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 223408322 223408322 G C SNP SUSD4 ENST00000344029 human ensembl 70_37 -1 known nonsense c.845 p.S282* 0.003 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC SUV420H1 51111 genome.wustl.edu 37 11 67933407 67933407 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 67933407 67933407 C T SNP SUV420H1 ENST00000402789 human ensembl 70_37 -1 putative missense c.1183 p.E395K 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC SV2C 22987 genome.wustl.edu 37 5 75428068 75428068 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 75428068 75428068 G C SNP SV2C ENST00000502798 human ensembl 70_37 +1 known missense c.493 p.D165H 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC SYBU 55638 genome.wustl.edu 37 8 110587893 110587893 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110587893 110587893 C T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1234 p.D412N 0.412 NULL NULL - no_errors SYBU HGNC SYBU 55638 genome.wustl.edu 37 8 110587935 110587935 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110587935 110587935 C T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1192 p.E398K 0.007 NULL NULL - no_errors SYBU HGNC SYBU 55638 genome.wustl.edu 37 8 110654959 110654959 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110654959 110654959 G C SNP SYBU ENST00000276646 human ensembl 70_37 -1 known nonsense c.227 p.S76* 1.000 NULL NULL - no_errors SYBU HGNC SYDE1 85360 genome.wustl.edu 37 19 15223195 15223195 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15223195 15223195 C T SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known silent c.1617 p.V539 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC SYDE2 84144 genome.wustl.edu 37 1 85656076 85656076 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 85656076 85656076 C T SNP SYDE2 ENST00000341460 human ensembl 70_37 -1 known missense c.1105 p.E369K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC SYNE1 23345 genome.wustl.edu 37 6 152646242 152646242 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 152646242 152646242 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.15634 p.E5212Q 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNGAP1 8831 genome.wustl.edu 37 6 33420137 33420137 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33420137 33420137 C T SNP SYNGAP1 ENST00000496374 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SYNGAP1 HGNC SYNGR1 9145 genome.wustl.edu 37 22 39770506 39770506 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 39770506 39770506 C G SNP SYNGR1 ENST00000328933 human ensembl 70_37 +1 known missense c.285 p.I95M 1.000 pfam_MARVEL-like_dom,pirsf_Synaptogyrin pfam_MARVEL-like_dom,pirsf_Synaptogyrin - no_errors SYNGR1 HGNC SYNJ2 8871 genome.wustl.edu 37 6 158487619 158487619 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 158487619 158487619 G C SNP SYNJ2 ENST00000355585 human ensembl 70_37 +1 known missense c.1669 p.D557H 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC SYNJ2 8871 genome.wustl.edu 37 6 158492751 158492751 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 158492751 158492751 G C SNP SYNJ2 ENST00000355585 human ensembl 70_37 +1 known silent c.2058 p.L686 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC SYT11 23208 genome.wustl.edu 37 1 155851212 155851212 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155851212 155851212 C G SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known silent c.1209 p.V403 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC SYT11 23208 genome.wustl.edu 37 1 155851247 155851247 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155851247 155851247 G A SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known missense c.1244 p.C415Y 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC SYT11 23208 genome.wustl.edu 37 1 155851251 155851251 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155851251 155851251 G A SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known silent c.1248 p.E416 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC SYT12 91683 genome.wustl.edu 37 11 66807534 66807534 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 66807534 66807534 G C SNP SYT12 ENST00000393946 human ensembl 70_37 +1 known missense c.481 p.E161Q 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT12 HGNC SYT16 83851 genome.wustl.edu 37 14 62536415 62536415 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 62536415 62536415 G C SNP SYT16 ENST00000446982 human ensembl 70_37 +1 known missense c.618 p.Q206H 1.000 NULL NULL - no_errors SYT16 HGNC SYT4 6860 genome.wustl.edu 37 18 40854012 40854012 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 40854012 40854012 C A SNP SYT4 ENST00000255224 human ensembl 70_37 -1 known nonsense c.382 p.E128* 0.986 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC SYVN1 84447 genome.wustl.edu 37 11 64896206 64896206 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64896206 64896206 G C SNP SYVN1 ENST00000527765 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYVN1 HGNC TACC2 10579 genome.wustl.edu 37 10 124013521 124013521 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124013521 124013521 G A SNP TACC2 ENST00000334433 human ensembl 70_37 +1 known missense c.8797 p.E2933K 1.000 pfam_TACC pfam_TACC - no_errors TACC2 HGNC TAF11 6882 genome.wustl.edu 37 6 34855587 34855587 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34855587 34855587 C G SNP TAF11 ENST00000361288 human ensembl 70_37 -1 known missense c.148 p.E50Q 0.913 NULL pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC TANC1 85461 genome.wustl.edu 37 2 160019895 160019895 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 160019895 160019895 C T SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.784 p.H262Y 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TANC1 85461 genome.wustl.edu 37 2 160080864 160080864 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 160080864 160080864 G A SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.3800 p.G1267E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TANC2 26115 genome.wustl.edu 37 17 61497691 61497691 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 61497691 61497691 C T SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.4348 p.R1450W 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC TAOK1 57551 genome.wustl.edu 37 17 27778620 27778620 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27778620 27778620 C G SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known silent c.54 p.L18 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC TAOK1 57551 genome.wustl.edu 37 17 27837950 27837950 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27837950 27837950 G C SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known silent c.1644 p.L548 0.986 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC TAOK1 57551 genome.wustl.edu 37 17 27849331 27849331 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27849331 27849331 G C SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known missense c.1942 p.E648Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC TAPBP 6892 genome.wustl.edu 37 6 33272263 33272263 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33272263 33272263 G C SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known missense c.1021 p.Q341E 0.000 pfam_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC TARS 6897 genome.wustl.edu 37 5 33448722 33448722 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 33448722 33448722 C T SNP TARS ENST00000265112 human ensembl 70_37 +1 known silent c.214 p.L72 0.993 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC TARSL2 123283 genome.wustl.edu 37 15 102194910 102194910 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 102194910 102194910 C G SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.2284 p.D762H 0.903 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC TAS2R4 50832 genome.wustl.edu 37 7 141478326 141478326 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 141478326 141478326 C G SNP TAS2R4 ENST00000247881 human ensembl 70_37 +1 known nonsense c.38 p.S13* 0.002 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC TASP1 55617 genome.wustl.edu 37 20 13610679 13610679 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 13610679 13610679 C T SNP TASP1 ENST00000337743 human ensembl 70_37 -1 known missense c.47 p.R16K 1.000 NULL pfam_Peptidase_T2 - no_errors TASP1 HGNC TAT 6898 genome.wustl.edu 37 16 71610147 71610147 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 71610147 71610147 C G SNP TAT ENST00000355962 human ensembl 70_37 -1 known missense c.172 p.A58P 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC TBC1D13 54662 genome.wustl.edu 37 9 131554812 131554812 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131554812 131554812 C G SNP TBC1D13 ENST00000372648 human ensembl 70_37 +1 known missense c.342 p.F114L 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC TBL3 10607 genome.wustl.edu 37 16 2027758 2027758 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2027758 2027758 G C SNP TBL3 ENST00000568546 human ensembl 70_37 +1 known missense c.1915 p.E639Q 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC TBR1 10716 genome.wustl.edu 37 2 162280548 162280548 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 162280548 162280548 C T SNP TBR1 ENST00000389554 human ensembl 70_37 +1 known missense c.1859 p.S620L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC TC2N 123036 genome.wustl.edu 37 14 92278671 92278671 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 92278671 92278671 G A SNP TC2N ENST00000340892 human ensembl 70_37 -1 known silent c.286 p.L96 0.869 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors TC2N HGNC TCAIM 285343 genome.wustl.edu 37 3 44396247 44396247 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44396247 44396247 C T SNP TCAIM ENST00000444602 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TCAIM HGNC TCAIM 285343 genome.wustl.edu 37 3 44409093 44409093 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44409093 44409093 G C SNP TCAIM ENST00000342649 human ensembl 70_37 +1 known missense c.465 p.R155S 0.000 NULL NULL - no_errors TCAIM HGNC TCERG1L 256536 genome.wustl.edu 37 10 132902613 132902613 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 132902613 132902613 G A SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.1400 p.S467L 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1L HGNC TCF23 150921 genome.wustl.edu 37 2 27375574 27375574 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27375574 27375574 C T SNP TCF23 ENST00000296096 human ensembl 70_37 +1 known missense c.484 p.R162C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF23 HGNC TCF25 22980 genome.wustl.edu 37 16 89940059 89940059 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89940059 89940059 C G SNP TCF25 ENST00000563032 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors TCF25 HGNC TCF25 22980 genome.wustl.edu 37 16 89940069 89940069 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89940069 89940069 C T SNP TCF25 ENST00000563032 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TCF25 HGNC TCF25 22980 genome.wustl.edu 37 16 89940235 89940235 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89940235 89940235 G C SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.160 p.E54Q 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC TCHH 7062 genome.wustl.edu 37 1 152082063 152082063 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152082063 152082063 C T SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.3630 p.R1210 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCHH 7062 genome.wustl.edu 37 1 152083115 152083115 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152083115 152083115 G C SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2578 p.Q860E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCTE3 6991 genome.wustl.edu 37 6 170143221 170143221 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 170143221 170143221 G A SNP TCTE3 ENST00000366774 human ensembl 70_37 -1 known silent c.441 p.F147 0.997 pfam_Tctex pfam_Tctex - no_errors TCTE3 HGNC TCTEX1D1 200132 genome.wustl.edu 37 1 67243159 67243159 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 67243159 67243159 C G SNP TCTEX1D1 ENST00000489510 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TCTEX1D1 HGNC TCTEX1D2 255758 genome.wustl.edu 37 3 196043031 196043031 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196043031 196043031 G C SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.185 p.S62C 0.569 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC TCTN2 79867 genome.wustl.edu 37 12 124156119 124156119 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124156119 124156119 G A SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known missense c.148 p.E50K 0.211 NULL pfam_DUF1619 - no_errors TCTN2 HGNC TDRD5 163589 genome.wustl.edu 37 1 179587787 179587787 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179587787 179587787 C G SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known missense c.885 p.I295M 0.526 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC TECTA 7007 genome.wustl.edu 37 11 120998545 120998545 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 120998545 120998545 C T SNP TECTA ENST00000264037 human ensembl 70_37 +1 known missense c.1859 p.S620L 0.999 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC TECTA 7007 genome.wustl.edu 37 11 121037448 121037448 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 121037448 121037448 C T SNP TECTA ENST00000264037 human ensembl 70_37 +1 known nonsense c.5545 p.Q1849* 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC TENM1 10178 genome.wustl.edu 37 X 123630972 123630972 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 123630972 123630972 G C SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.3589 p.P1197A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TENM2 57451 genome.wustl.edu 37 5 167553926 167553926 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 167553926 167553926 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.2377 p.G793S 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TENM3 55714 genome.wustl.edu 37 4 183601861 183601861 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 183601861 183601861 C G SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known nonsense c.1805 p.S602* 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TENM4 26011 genome.wustl.edu 37 11 78387290 78387290 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 78387290 78387290 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.5403 p.T1801 0.494 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TET2 54790 genome.wustl.edu 37 4 106158171 106158171 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 106158171 106158171 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.3072 p.I1024M 0.972 NULL NULL - no_errors TET2 HGNC TEX10 54881 genome.wustl.edu 37 9 103102638 103102638 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 103102638 103102638 C T SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known missense c.1151 p.R384Q 1.000 superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC TEX14 56155 genome.wustl.edu 37 17 56676893 56676893 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56676893 56676893 C G SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known missense c.1831 p.E611Q 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC TEX2 55852 genome.wustl.edu 37 17 62290576 62290576 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62290576 62290576 C G SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.1002 p.L334F 0.998 NULL pfam_DUF2404 - no_errors TEX2 HGNC TEX36 387718 genome.wustl.edu 37 10 127344508 127344508 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 127344508 127344508 G C SNP TEX36 ENST00000368821 human ensembl 70_37 -1 known missense c.522 p.F174L 0.000 NULL NULL - no_errors TEX36 HGNC TFEB 7942 genome.wustl.edu 37 6 41658858 41658858 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41658858 41658858 G A SNP TFEB ENST00000230323 human ensembl 70_37 -1 known missense c.94 p.H32Y 0.999 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFEB HGNC TFG 10342 genome.wustl.edu 37 3 100451391 100451391 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 100451391 100451391 C T SNP TFG ENST00000240851 human ensembl 70_37 +1 known missense c.455 p.S152F 1.000 NULL pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC TGIF2 60436 genome.wustl.edu 37 20 35207298 35207298 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 35207298 35207298 C T SNP TGIF2 ENST00000373872 human ensembl 70_37 +1 known missense c.121 p.R41C 1.000 pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2 HGNC TGM5 9333 genome.wustl.edu 37 15 43533169 43533169 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 43533169 43533169 G C SNP TGM5 ENST00000220420 human ensembl 70_37 -1 known missense c.882 p.I294M 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC THBS1 7057 genome.wustl.edu 37 15 39879667 39879667 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 39879667 39879667 G C SNP THBS1 ENST00000260356 human ensembl 70_37 +1 known missense c.1240 p.E414Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC THBS3 7059 genome.wustl.edu 37 1 155167871 155167871 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155167871 155167871 C T SNP THBS3 ENST00000368378 human ensembl 70_37 -1 known missense c.2215 p.D739N 1.000 superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC THOC3 84321 genome.wustl.edu 37 5 175395007 175395007 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 175395007 175395007 G T SNP THOC3 ENST00000265097 human ensembl 70_37 -1 known missense c.205 p.R69S 1.000 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,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC THPO 7066 genome.wustl.edu 37 3 184090438 184090438 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184090438 184090438 G A SNP THPO ENST00000204615 human ensembl 70_37 -1 known missense c.925 p.L309F 0.714 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC THRAP3 9967 genome.wustl.edu 37 1 36752157 36752157 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 36752157 36752157 C G SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known nonsense c.326 p.S109* 0.996 NULL NULL - no_errors THRAP3 HGNC THSD7A 221981 genome.wustl.edu 37 7 11676040 11676040 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 11676040 11676040 C G SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.739 p.E247Q 0.606 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC TIAM1 7074 genome.wustl.edu 37 21 32554751 32554751 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 32554751 32554751 G C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.2874 p.L958 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC TICAM1 148022 genome.wustl.edu 37 19 4818198 4818198 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4818198 4818198 C G SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.192 p.L64F 0.074 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC TICRR 90381 genome.wustl.edu 37 15 90127592 90127592 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 90127592 90127592 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.1010 p.P337L 0.994 NULL NULL - no_errors TICRR HGNC TIGD5 84948 genome.wustl.edu 37 8 144681231 144681231 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144681231 144681231 C T SNP TIGD5 ENST00000504548 human ensembl 70_37 +1 known silent c.1158 p.L386 0.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD5 HGNC TIMM22 29928 genome.wustl.edu 37 17 900554 900554 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 900554 900554 G A SNP TIMM22 ENST00000327158 human ensembl 70_37 +1 known missense c.172 p.E58K 1.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC TIMM9 26520 genome.wustl.edu 37 14 58875635 58875635 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 58875635 58875635 G A SNP TIMM9 ENST00000216463 human ensembl 70_37 -1 known rna NULL NULL 0.400 - - - no_errors TIMM9 HGNC TJP2 9414 genome.wustl.edu 37 9 71864376 71864376 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 71864376 71864376 C T SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.3059 p.P1020L 1.000 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC TKTL1 8277 genome.wustl.edu 37 X 153524261 153524261 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153524261 153524261 G A SNP TKTL1 ENST00000369915 human ensembl 70_37 +1 known missense c.49 p.D17N 0.764 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC TLK1 9874 genome.wustl.edu 37 2 172016841 172016841 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172016841 172016841 G C SNP TLK1 ENST00000431350 human ensembl 70_37 -1 known missense c.98 p.S33C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK1 HGNC TLR10 81793 genome.wustl.edu 37 4 38775583 38775583 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 38775583 38775583 C G SNP TLR10 ENST00000308973 human ensembl 70_37 -1 known missense c.1629 p.M543I 0.292 smart_Cys-rich_flank_reg_C,pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom - no_errors TLR10 HGNC TLR10 81793 genome.wustl.edu 37 4 38776233 38776233 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 38776233 38776233 C T SNP TLR10 ENST00000308973 human ensembl 70_37 -1 known missense c.979 p.D327N 0.997 pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom - no_errors TLR10 HGNC TLR7 51284 genome.wustl.edu 37 X 12905598 12905598 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 12905598 12905598 C G SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.1971 p.I657M 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC TLR7 51284 genome.wustl.edu 37 X 12905745 12905745 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 12905745 12905745 C G SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known silent c.2118 p.L706 0.996 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC TLX1 3195 genome.wustl.edu 37 10 102896478 102896478 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 102896478 102896478 G A SNP TLX1 ENST00000370196 human ensembl 70_37 +1 known silent c.801 p.E267 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX1 HGNC TLX3 30012 genome.wustl.edu 37 5 170736771 170736771 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 170736771 170736771 C T SNP TLX3 ENST00000296921 human ensembl 70_37 +1 known silent c.402 p.F134 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX3 HGNC TM6SF1 53346 genome.wustl.edu 37 15 83791585 83791585 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 83791585 83791585 C G SNP TM6SF1 ENST00000379386 human ensembl 70_37 +1 known missense c.567 p.F189L 1.000 NULL pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC TM7SF3 51768 genome.wustl.edu 37 12 27156275 27156275 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 27156275 27156275 C G SNP TM7SF3 ENST00000343028 human ensembl 70_37 -1 known missense c.140 p.R47T 0.000 NULL NULL - no_errors TM7SF3 HGNC TM9SF1 10548 genome.wustl.edu 37 14 24663944 24663944 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24663944 24663944 C G SNP TM9SF1 ENST00000556387 human ensembl 70_37 -1 known missense c.909 p.E303D 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC TMC7 79905 genome.wustl.edu 37 16 19020719 19020719 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 19020719 19020719 C G SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.293 p.S98C 0.995 NULL pfam_TMC - no_errors TMC7 HGNC TMED5 50999 genome.wustl.edu 37 1 93621908 93621908 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 93621908 93621908 C G SNP TMED5 ENST00000370282 human ensembl 70_37 -1 known missense c.420 p.K140N 1.000 pfam_GOLD,superfamily_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED5 HGNC TMEM117 84216 genome.wustl.edu 37 12 44605135 44605135 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 44605135 44605135 C G SNP TMEM117 ENST00000266534 human ensembl 70_37 +1 known missense c.573 p.F191L 1.000 NULL NULL - no_errors TMEM117 HGNC TMEM127 55654 genome.wustl.edu 37 2 96920718 96920718 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 96920718 96920718 G C SNP TMEM127 ENST00000258439 human ensembl 70_37 -1 known missense c.262 p.Q88E 1.000 NULL NULL - no_errors TMEM127 HGNC TMEM132B 114795 genome.wustl.edu 37 12 125834468 125834468 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 125834468 125834468 C G SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.523 p.R175G 0.998 NULL NULL - no_errors TMEM132B HGNC TMEM167A 153339 genome.wustl.edu 37 5 82357701 82357701 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82357701 82357701 C T SNP TMEM167A ENST00000502346 human ensembl 70_37 -1 known missense c.143 p.R48K 1.000 NULL pfam_DUF1242 - no_errors TMEM167A HGNC TMEM169 92691 genome.wustl.edu 37 2 216964747 216964747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 216964747 216964747 G C SNP TMEM169 ENST00000295658 human ensembl 70_37 +1 known missense c.376 p.E126Q 1.000 NULL NULL - no_errors TMEM169 HGNC TMEM176B 28959 genome.wustl.edu 37 7 150491133 150491133 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150491133 150491133 C G SNP TMEM176B ENST00000326442 human ensembl 70_37 -1 known silent c.231 p.V77 0.799 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC TMEM185B 79134 genome.wustl.edu 37 2 120979971 120979971 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120979971 120979971 G C SNP TMEM185B ENST00000426077 human ensembl 70_37 -1 known silent c.582 p.L194 0.989 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC TMEM185B 79134 genome.wustl.edu 37 2 120980339 120980339 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120980339 120980339 G C SNP TMEM185B ENST00000426077 human ensembl 70_37 -1 known missense c.214 p.R72G 0.999 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC TMEM191A 84222 genome.wustl.edu 37 22 21056386 21056386 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21056386 21056386 G A SNP TMEM191A ENST00000450925 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors TMEM191A HGNC TMEM191A 84222 genome.wustl.edu 37 22 21056444 21056444 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21056444 21056444 G A SNP TMEM191A ENST00000450925 human ensembl 70_37 +1 known rna NULL NULL 0.551 - - - no_errors TMEM191A HGNC TMEM2 23670 genome.wustl.edu 37 9 74327133 74327133 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 74327133 74327133 G A SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known missense c.2635 p.H879Y 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC TMEM2 23670 genome.wustl.edu 37 9 74361180 74361180 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 74361180 74361180 C A SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known nonsense c.409 p.E137* 1.000 pfam_G8_domain pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC TMEM2 23670 genome.wustl.edu 37 9 74365015 74365015 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 74365015 74365015 G A SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known missense c.275 p.S92L 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC TMEM200C 645369 genome.wustl.edu 37 18 5891520 5891520 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 5891520 5891520 G A SNP TMEM200C ENST00000383490 human ensembl 70_37 -1 known silent c.543 p.I181 0.999 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC TMEM252 169693 genome.wustl.edu 37 9 71152191 71152191 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 71152191 71152191 C G SNP TMEM252 ENST00000377311 human ensembl 70_37 -1 known missense c.497 p.R166P 0.000 NULL NULL - no_errors TMEM252 HGNC TMEM44 93109 genome.wustl.edu 37 3 194344315 194344315 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 194344315 194344315 C T SNP TMEM44 ENST00000392432 human ensembl 70_37 -1 known silent c.468 p.P156 0.000 NULL NULL - no_errors TMEM44 HGNC TMEM45A 55076 genome.wustl.edu 37 3 100295885 100295885 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 100295885 100295885 C G SNP TMEM45A ENST00000488904 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors TMEM45A HGNC TMEM5 10329 genome.wustl.edu 37 12 64174868 64174868 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 64174868 64174868 G A SNP TMEM5 ENST00000261234 human ensembl 70_37 +1 known missense c.239 p.R80K 0.998 NULL pfam_Exostosin - no_errors TMEM5 HGNC TMEM72 643236 genome.wustl.edu 37 10 45430487 45430487 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 45430487 45430487 G C SNP TMEM72 ENST00000544540 human ensembl 70_37 +1 known missense c.379 p.E127Q 1.000 NULL NULL - no_errors TMEM72 HGNC TMEM80 283232 genome.wustl.edu 37 11 700746 700746 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 700746 700746 G C SNP TMEM80 ENST00000488769 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM80 HGNC TMPRSS7 344805 genome.wustl.edu 37 3 111785331 111785331 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 111785331 111785331 G A SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known missense c.1270 p.E424K 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC TMPRSS7 344805 genome.wustl.edu 37 3 111795803 111795803 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 111795803 111795803 G A SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known missense c.1658 p.R553K 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC TMPRSS9 360200 genome.wustl.edu 37 19 2408436 2408436 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2408436 2408436 G A SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known missense c.823 p.V275M 0.059 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC TMPRSS9 360200 genome.wustl.edu 37 19 2408502 2408502 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2408502 2408502 G C SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known missense c.889 p.E297Q 0.993 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC TNFRSF14 8764 genome.wustl.edu 37 1 2493180 2493180 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2493180 2493180 C G SNP TNFRSF14 ENST00000355716 human ensembl 70_37 +1 known nonsense c.620 p.S207* 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt - no_errors TNFRSF14 HGNC TNFRSF14 8764 genome.wustl.edu 37 1 2493276 2493276 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2493276 2493276 C T SNP TNFRSF14 ENST00000480305 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TNFRSF14 HGNC TNFRSF18 8784 genome.wustl.edu 37 1 1139439 1139439 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1139439 1139439 C T SNP TNFRSF18 ENST00000379268 human ensembl 70_37 -1 known silent c.576 p.L192 0.940 NULL smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_18 - no_errors TNFRSF18 HGNC TNFRSF1A 7132 genome.wustl.edu 37 12 6440011 6440011 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6440011 6440011 C T SNP TNFRSF1A ENST00000535038 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors TNFRSF1A HGNC TNIK 23043 genome.wustl.edu 37 3 170928992 170928992 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170928992 170928992 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known silent c.219 p.L73 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_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 TNKS1BP1 85456 genome.wustl.edu 37 11 57080766 57080766 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57080766 57080766 C T SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.1396 p.A466T 0.911 NULL NULL - no_errors TNKS1BP1 HGNC TNKS2 80351 genome.wustl.edu 37 10 93611064 93611064 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 93611064 93611064 G A SNP TNKS2 ENST00000371627 human ensembl 70_37 +1 known missense c.2786 p.G929E 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC TNP2 7142 genome.wustl.edu 37 16 11362926 11362926 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11362926 11362926 G C SNP TNP2 ENST00000312693 human ensembl 70_37 -1 known nonsense c.194 p.S65* 0.052 pfam_TP2 pfam_TP2 - no_errors TNP2 HGNC TNPO3 23534 genome.wustl.edu 37 7 128641126 128641126 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 128641126 128641126 C T SNP TNPO3 ENST00000393245 human ensembl 70_37 -1 known missense c.859 p.E287K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC TNRC18 84629 genome.wustl.edu 37 7 5372257 5372257 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5372257 5372257 C T SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.6143 p.R2048K 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC TNS1 7145 genome.wustl.edu 37 2 218674679 218674679 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 218674679 218674679 C G SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known missense c.4828 p.E1610Q 1.000 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC TOLLIP 54472 genome.wustl.edu 37 11 1298482 1298482 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1298482 1298482 C T SNP TOLLIP ENST00000527938 human ensembl 70_37 -1 putative missense c.185 p.G62E 0.058 NULL NULL - no_errors TOLLIP HGNC TOMM40L 84134 genome.wustl.edu 37 1 161199825 161199825 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 161199825 161199825 C G SNP TOMM40L ENST00000474486 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors TOMM40L HGNC TOP2A 7153 genome.wustl.edu 37 17 38547881 38547881 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38547881 38547881 C G SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known missense c.4144 p.D1382H 0.003 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC TOP2B 7155 genome.wustl.edu 37 3 25683865 25683865 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 25683865 25683865 C G SNP TOP2B ENST00000264331 human ensembl 70_37 -1 known missense c.343 p.D115H 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_Topo_IIA,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2B HGNC TOPAZ1 375337 genome.wustl.edu 37 3 44332376 44332376 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44332376 44332376 G C SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known silent c.3795 p.S1265 0.998 NULL NULL - no_errors TOPAZ1 HGNC TOPBP1 11073 genome.wustl.edu 37 3 133374143 133374143 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 133374143 133374143 C T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.733 p.E245K 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC TOR1B 27348 genome.wustl.edu 37 9 132566622 132566622 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 132566622 132566622 G C SNP TOR1B ENST00000486372 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors TOR1B HGNC TP53INP2 58476 genome.wustl.edu 37 20 33297290 33297290 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 33297290 33297290 C G SNP TP53INP2 ENST00000374809 human ensembl 70_37 +1 known silent c.375 p.L125 0.678 NULL NULL - no_errors TP53INP2 HGNC TP53TG5 27296 genome.wustl.edu 37 20 44002607 44002607 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 44002607 44002607 C G SNP TP53TG5 ENST00000372726 human ensembl 70_37 -1 known missense c.813 p.W271C 0.004 NULL NULL - no_errors TP53TG5 HGNC TP53TG5 27296 genome.wustl.edu 37 20 44002619 44002619 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 44002619 44002619 C G SNP TP53TG5 ENST00000372726 human ensembl 70_37 -1 known silent c.801 p.A267 0.000 NULL NULL - no_errors TP53TG5 HGNC TP63 8626 genome.wustl.edu 37 3 189586483 189586483 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 189586483 189586483 G C SNP TP63 ENST00000264731 human ensembl 70_37 +1 known missense c.1107 p.K369N 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC TPD52L3 89882 genome.wustl.edu 37 9 6328703 6328703 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 6328703 6328703 C G SNP TPD52L3 ENST00000344545 human ensembl 70_37 +1 known silent c.108 p.L36 0.001 pfam_TPD52 pfam_TPD52 - no_errors TPD52L3 HGNC TPM3 7170 genome.wustl.edu 37 1 154145294 154145294 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 154145294 154145294 G A SNP TPM3 ENST00000469717 human ensembl 70_37 -1 known rna NULL NULL 0.073 - - - no_errors TPM3 HGNC TPST1 8460 genome.wustl.edu 37 7 65821815 65821815 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65821815 65821815 G A SNP TPST1 ENST00000304842 human ensembl 70_37 +1 known missense c.1099 p.E367K 0.980 NULL pfam_Sulfotransferase_dom - no_errors TPST1 HGNC TRAF3 7187 genome.wustl.edu 37 14 103336564 103336564 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 103336564 103336564 C T SNP TRAF3 ENST00000392745 human ensembl 70_37 +1 known missense c.26 p.S9F 0.958 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC TRAF3IP2 10758 genome.wustl.edu 37 6 111913016 111913016 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 111913016 111913016 C G SNP TRAF3IP2 ENST00000340026 human ensembl 70_37 -1 known missense c.301 p.E101Q 1.000 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC TRAF4 9618 genome.wustl.edu 37 17 27075394 27075394 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27075394 27075394 C T SNP TRAF4 ENST00000262395 human ensembl 70_37 +1 known nonsense c.577 p.Q193* 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC TRAK1 22906 genome.wustl.edu 37 3 42128645 42128645 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 42128645 42128645 C G SNP TRAK1 ENST00000487159 human ensembl 70_37 +1 known rna NULL NULL 0.207 - - - no_errors TRAK1 HGNC TRANK1 9881 genome.wustl.edu 37 3 36899397 36899397 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 36899397 36899397 G A SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known missense c.1684 p.R562C 0.979 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC TRAPPC1 58485 genome.wustl.edu 37 17 7833972 7833972 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7833972 7833972 C T SNP TRAPPC1 ENST00000303731 human ensembl 70_37 -1 known silent c.390 p.L130 0.996 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC TRAPPC11 60684 genome.wustl.edu 37 4 184585162 184585162 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 184585162 184585162 C T SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known nonsense c.142 p.R48* 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC TRAPPC11 60684 genome.wustl.edu 37 4 184585175 184585175 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 184585175 184585175 C G SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known missense c.155 p.S52C 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC TRHDE 29953 genome.wustl.edu 37 12 72667020 72667020 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 72667020 72667020 C G SNP TRHDE ENST00000261180 human ensembl 70_37 +1 known silent c.462 p.L154 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC TRIB2 28951 genome.wustl.edu 37 2 12880670 12880670 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 12880670 12880670 C T SNP TRIB2 ENST00000155926 human ensembl 70_37 +1 known missense c.782 p.S261F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB2 HGNC TRIB3 57761 genome.wustl.edu 37 20 372012 372012 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 372012 372012 G A SNP TRIB3 ENST00000422053 human ensembl 70_37 +1 known missense c.454 p.E152K 0.991 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB3 HGNC TRIM14 9830 genome.wustl.edu 37 9 100849773 100849773 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100849773 100849773 G A SNP TRIM14 ENST00000341469 human ensembl 70_37 -1 known silent c.1308 p.I436 0.948 smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC TRIM16 10626 genome.wustl.edu 37 17 15554673 15554673 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 15554673 15554673 G C SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known missense c.251 p.T84S 0.144 smart_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC TRIM2 23321 genome.wustl.edu 37 4 154191652 154191652 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 154191652 154191652 C T SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.196 p.L66 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING 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 TRIM31 11074 genome.wustl.edu 37 6 30071895 30071895 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30071895 30071895 G A SNP TRIM31 ENST00000376734 human ensembl 70_37 -1 known silent c.1008 p.P336 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata - no_errors TRIM31 HGNC TRIM46 80128 genome.wustl.edu 37 1 155147102 155147102 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155147102 155147102 G A SNP TRIM46 ENST00000464760 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors TRIM46 HGNC TRIM62 55223 genome.wustl.edu 37 1 33613039 33613039 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33613039 33613039 G A SNP TRIM62 ENST00000291416 human ensembl 70_37 -1 known silent c.1167 p.I389 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC TRIM72 493829 genome.wustl.edu 37 16 31235640 31235640 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31235640 31235640 C T SNP TRIM72 ENST00000322122 human ensembl 70_37 +1 known missense c.998 p.A333V 0.971 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC TRIM9 114088 genome.wustl.edu 37 14 51477205 51477205 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 51477205 51477205 C G SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.1049 p.R350P 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,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 - no_errors TRIM9 HGNC TRIP10 9322 genome.wustl.edu 37 19 6751284 6751284 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6751284 6751284 C T SNP TRIP10 ENST00000596758 human ensembl 70_37 +1 known nonsense c.1729 p.Q577* 0.718 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors TRIP10 HGNC TRIP11 9321 genome.wustl.edu 37 14 92472348 92472348 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 92472348 92472348 G A SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1972 p.L658F 0.963 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRIP13 9319 genome.wustl.edu 37 5 908479 908479 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 908479 908479 C G SNP TRIP13 ENST00000166345 human ensembl 70_37 +1 known missense c.769 p.L257V 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase,prints_Chaprnin_ClpA/B - no_errors TRIP13 HGNC TRMT1 55621 genome.wustl.edu 37 19 13226520 13226520 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 13226520 13226520 C G SNP TRMT1 ENST00000357720 human ensembl 70_37 -1 known missense c.373 p.E125Q 0.999 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC TROAP 10024 genome.wustl.edu 37 12 49717669 49717669 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49717669 49717669 C T SNP TROAP ENST00000257909 human ensembl 70_37 +1 known silent c.186 p.L62 0.000 NULL NULL - no_errors TROAP HGNC TROAP 10024 genome.wustl.edu 37 12 49720471 49720471 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49720471 49720471 C G SNP TROAP ENST00000257909 human ensembl 70_37 +1 known nonsense c.737 p.S246* 0.988 NULL NULL - no_errors TROAP HGNC TRPC3 7222 genome.wustl.edu 37 4 122833186 122833186 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 122833186 122833186 G C SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known missense c.1404 p.I468M 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC TRPC6 7225 genome.wustl.edu 37 11 101347230 101347230 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 101347230 101347230 G A SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known nonsense c.1546 p.Q516* 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC TRPM1 4308 genome.wustl.edu 37 15 31354877 31354877 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 31354877 31354877 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.1045 p.L349F 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TRPT1 83707 genome.wustl.edu 37 11 63992160 63992160 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 63992160 63992160 C T SNP TRPT1 ENST00000394546 human ensembl 70_37 -1 known silent c.363 p.E121 0.993 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC TRPV6 55503 genome.wustl.edu 37 7 142573425 142573425 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 142573425 142573425 C T SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.918 p.Q306 0.994 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 TRRAP 8295 genome.wustl.edu 37 7 98550892 98550892 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 98550892 98550892 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.5545 p.D1849N 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TSC2 7249 genome.wustl.edu 37 16 2129076 2129076 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2129076 2129076 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.3010 p.D1004N 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSC2 7249 genome.wustl.edu 37 16 2129355 2129355 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2129355 2129355 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3210 p.T1070 0.056 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSGA10IP 254187 genome.wustl.edu 37 11 65715065 65715065 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65715065 65715065 G C SNP TSGA10IP ENST00000532620 human ensembl 70_37 +1 known rna NULL NULL 0.920 - - - no_errors TSGA10IP HGNC TSPAN33 340348 genome.wustl.edu 37 7 128807381 128807381 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 128807381 128807381 C G SNP TSPAN33 ENST00000289407 human ensembl 70_37 +1 known missense c.730 p.L244V 0.994 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN33 HGNC TSPYL2 64061 genome.wustl.edu 37 X 53113756 53113756 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 53113756 53113756 G C SNP TSPYL2 ENST00000375442 human ensembl 70_37 +1 known missense c.837 p.L279F 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC TTBK1 84630 genome.wustl.edu 37 6 43237552 43237552 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43237552 43237552 G A SNP TTBK1 ENST00000304139 human ensembl 70_37 +1 putative silent c.1865 p.*622 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC TTBK2 146057 genome.wustl.edu 37 15 43045109 43045109 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 43045109 43045109 C G SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.2335 p.E779Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC TTBK2 146057 genome.wustl.edu 37 15 43069344 43069344 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 43069344 43069344 G C SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.1294 p.Q432E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC TTC12 54970 genome.wustl.edu 37 11 113238961 113238961 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 113238961 113238961 G C SNP TTC12 ENST00000314756 human ensembl 70_37 +1 known missense c.2095 p.E699Q 0.000 NULL pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC TTC18 118491 genome.wustl.edu 37 10 75072284 75072284 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 75072284 75072284 C G SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known missense c.1240 p.D414H 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC TTC21B 79809 genome.wustl.edu 37 2 166740408 166740408 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 166740408 166740408 C T SNP TTC21B ENST00000243344 human ensembl 70_37 -1 known missense c.3580 p.E1194K 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC TTC30B 150737 genome.wustl.edu 37 2 178416151 178416151 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178416151 178416151 G A SNP TTC30B ENST00000408939 human ensembl 70_37 -1 known silent c.1341 p.F447 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC TTC4 7268 genome.wustl.edu 37 1 55197170 55197170 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 55197170 55197170 C T SNP TTC4 ENST00000371281 human ensembl 70_37 +1 known silent c.693 p.I231 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC TTL 150465 genome.wustl.edu 37 2 113286340 113286340 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113286340 113286340 C G SNP TTL ENST00000233336 human ensembl 70_37 +1 known missense c.1102 p.Q368E 0.019 NULL pfam_Tub_tyr_ligase - no_errors TTL HGNC TTL 150465 genome.wustl.edu 37 2 113286901 113286901 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113286901 113286901 C T SNP TTL ENST00000460450 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTL HGNC TTL 150465 genome.wustl.edu 37 2 113288821 113288821 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113288821 113288821 C T SNP TTL ENST00000460450 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors TTL HGNC TTL 150465 genome.wustl.edu 37 2 113288911 113288911 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113288911 113288911 C T SNP TTL ENST00000460450 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors TTL HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1109679 1109679 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1109679 1109679 G A SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TTLL10-AS1 HGNC TTLL11 158135 genome.wustl.edu 37 9 124751992 124751992 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 124751992 124751992 C G SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known missense c.1021 p.D341H 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC TTN 7273 genome.wustl.edu 37 2 179396953 179396953 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179396953 179396953 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.96685 p.E32229Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179416909 179416909 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179416909 179416909 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.83014 p.D27672N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179433331 179433331 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179433331 179433331 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.69824 p.R23275T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179440066 179440066 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179440066 179440066 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.63089 p.G21030V 0.999 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179444734 179444734 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179444734 179444734 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.59576 p.R19859P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179463734 179463734 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179463734 179463734 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.48999 p.M16333I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179465782 179465782 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179465782 179465782 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.48145 p.E16049Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179470335 179470335 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179470335 179470335 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.45983 p.G15328V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179479247 179479247 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179479247 179479247 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.41290 p.E13764K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179522671 179522671 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179522671 179522671 C A SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.37810 p.V12604F 0.268 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179528238 179528238 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179528238 179528238 C T SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.36538 p.E12180K 0.274 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179582334 179582334 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179582334 179582334 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.21535 p.D7179H 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179585914 179585914 + Missense_Mutation SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179585914 179585914 A C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.19100 p.V6367G 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179635314 179635314 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179635314 179635314 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.8205 p.V2735 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179641355 179641355 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179641355 179641355 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.5236 p.E1746Q 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 TTN 7273 genome.wustl.edu 37 2 179666893 179666893 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179666893 179666893 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.267 p.A89 0.997 pfam_Ig_I-set,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 TTN-AS1 100506866 genome.wustl.edu 37 2 179462626 179462626 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179462626 179462626 G C SNP TTN-AS1 ENST00000592689 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC TUBA1C 84790 genome.wustl.edu 37 12 49666945 49666945 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49666945 49666945 G C SNP TUBA1C ENST00000301072 human ensembl 70_37 +1 known missense c.1285 p.E429Q 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC TUBB 203068 genome.wustl.edu 37 6 30691419 30691419 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30691419 30691419 G C SNP TUBB ENST00000327892 human ensembl 70_37 +1 known missense c.580 p.E194Q 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Gamma_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC TUBB4A 10382 genome.wustl.edu 37 19 6495204 6495204 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6495204 6495204 C G SNP TUBB4A ENST00000264071 human ensembl 70_37 -1 known missense c.1306 p.E436Q 1.000 prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC TUFT1 7286 genome.wustl.edu 37 1 151536388 151536388 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151536388 151536388 G C SNP TUFT1 ENST00000538902 human ensembl 70_37 +1 known missense c.303 p.L101F 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC TUSC1 286319 genome.wustl.edu 37 9 25677788 25677788 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 25677788 25677788 C G SNP TUSC1 ENST00000358022 human ensembl 70_37 -1 known missense c.532 p.E178Q 0.797 NULL NULL - no_errors TUSC1 HGNC TUT1 64852 genome.wustl.edu 37 11 62342669 62342669 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62342669 62342669 C T SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.2636 p.R879Q 0.183 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC TXNRD2 10587 genome.wustl.edu 37 22 19903312 19903312 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19903312 19903312 G A SNP TXNRD2 ENST00000535882 human ensembl 70_37 -1 known silent c.501 p.C167 0.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC TYK2 7297 genome.wustl.edu 37 19 10461627 10461627 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461627 10461627 C G SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.3447 p.K1149N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC TYK2 7297 genome.wustl.edu 37 19 10461768 10461768 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461768 10461768 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.3389 p.R1130Q 0.591 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC TYK2 7297 genome.wustl.edu 37 19 10461781 10461781 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461781 10461781 C G SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.3376 p.E1126Q 0.327 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC TYK2 7297 genome.wustl.edu 37 19 10461839 10461839 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461839 10461839 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known splice_site c.3319-1 e22-1 1.000 - - - no_errors TYK2 HGNC TYK2 7297 genome.wustl.edu 37 19 10463228 10463228 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10463228 10463228 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known splice_site c.3201-1 e21-1 1.000 - - - no_errors TYK2 HGNC TYMS 7298 genome.wustl.edu 37 18 670729 670729 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 670729 670729 C G SNP TYMS ENST00000323274 human ensembl 70_37 +1 known silent c.594 p.L198 0.884 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC UACA 55075 genome.wustl.edu 37 15 70960244 70960244 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 70960244 70960244 C G SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.2779 p.E927Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UACA 55075 genome.wustl.edu 37 15 70961397 70961397 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 70961397 70961397 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.1626 p.L542 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UBD 10537 genome.wustl.edu 37 6 29523823 29523823 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29523823 29523823 G A SNP UBD ENST00000377050 human ensembl 70_37 -1 known missense c.332 p.S111L 0.997 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBD HGNC UBE2D3 7323 genome.wustl.edu 37 4 103747823 103747823 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 103747823 103747823 C G SNP UBE2D3 ENST00000513098 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2D3 HGNC UBE2O 63893 genome.wustl.edu 37 17 74392782 74392782 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74392782 74392782 C T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.2236 p.G746R 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC UBLCP1 134510 genome.wustl.edu 37 5 158705280 158705280 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 158705280 158705280 C T SNP UBLCP1 ENST00000296786 human ensembl 70_37 +1 known missense c.719 p.S240L 0.873 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_HAD-SF_hydro_IIID pfam_NIF,pfam_Ubiquitin,superfamily_HAD-like_dom,smart_Ubiquitin,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID - no_errors UBLCP1 HGNC UBOX5 22888 genome.wustl.edu 37 20 3102562 3102562 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3102562 3102562 C T SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known silent c.723 p.E241 0.236 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC UBQLN3 50613 genome.wustl.edu 37 11 5529891 5529891 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5529891 5529891 C G SNP UBQLN3 ENST00000311659 human ensembl 70_37 -1 known missense c.898 p.D300H 1.000 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC UBQLNL 143630 genome.wustl.edu 37 11 5537435 5537435 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5537435 5537435 G C SNP UBQLNL ENST00000380184 human ensembl 70_37 -1 putative silent c.237 p.L79 0.996 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC UBR4 23352 genome.wustl.edu 37 1 19401254 19401254 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 19401254 19401254 G A SNP UBR4 ENST00000459947 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors UBR4 HGNC UBXN7 26043 genome.wustl.edu 37 3 196088738 196088738 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196088738 196088738 G A SNP UBXN7 ENST00000296328 human ensembl 70_37 -1 known missense c.1285 p.L429F 1.000 pfam_UBX,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC UFD1L 7353 genome.wustl.edu 37 22 19442308 19442308 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19442308 19442308 G A SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known silent c.813 p.I271 1.000 NULL pfam_UFD1 - no_errors UFD1L HGNC UGT1A7 54577 genome.wustl.edu 37 2 234590793 234590793 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 234590793 234590793 G A SNP UGT1A7 ENST00000373426 human ensembl 70_37 +1 known silent c.210 p.L70 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC UGT2B11 10720 genome.wustl.edu 37 4 70074191 70074191 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 70074191 70074191 C T SNP UGT2B11 ENST00000446444 human ensembl 70_37 -1 known missense c.880 p.E294K 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC UGT3A2 167127 genome.wustl.edu 37 5 36066870 36066870 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 36066870 36066870 G A SNP UGT3A2 ENST00000282507 human ensembl 70_37 -1 known missense c.22 p.L8F 0.560 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34791077 34791077 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34791077 34791077 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.290 p.P97L 1.000 NULL NULL - no_errors UHRF1BP1 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34835034 34835034 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34835034 34835034 C G SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.3445 p.L1149V 0.414 NULL NULL - no_errors UHRF1BP1 HGNC ULBP3 79465 genome.wustl.edu 37 6 150386782 150386782 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 150386782 150386782 G C SNP ULBP3 ENST00000367339 human ensembl 70_37 -1 known missense c.380 p.S127C 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP3 HGNC UNC13B 10497 genome.wustl.edu 37 9 35310582 35310582 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 35310582 35310582 C T SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.916 p.H306Y 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC UNC13D 201294 genome.wustl.edu 37 17 73824970 73824970 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73824970 73824970 C T SNP UNC13D ENST00000412096 human ensembl 70_37 -1 known missense c.3049 p.E1017K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC UNC45A 55898 genome.wustl.edu 37 15 91496406 91496406 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91496406 91496406 C T SNP UNC45A ENST00000418476 human ensembl 70_37 +1 known nonsense c.2443 p.Q815* 0.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC UNC5A 90249 genome.wustl.edu 37 5 176301441 176301441 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176301441 176301441 G A SNP UNC5A ENST00000329542 human ensembl 70_37 +1 known missense c.1252 p.E418K 1.000 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5A HGNC UNC79 57578 genome.wustl.edu 37 14 94160720 94160720 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 94160720 94160720 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known missense c.7693 p.E2565K 1.000 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC UNC80 285175 genome.wustl.edu 37 2 210685166 210685166 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 210685166 210685166 G A SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known silent c.2094 p.K698 0.992 NULL NULL - no_errors UNC80 HGNC UPF1 5976 genome.wustl.edu 37 19 18968252 18968252 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 18968252 18968252 C T SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known silent c.2125 p.L709 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC UROS 7390 genome.wustl.edu 37 10 127503687 127503687 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 127503687 127503687 C G SNP UROS ENST00000368786 human ensembl 70_37 -1 known missense c.160 p.E54Q 0.609 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC USH1C 10083 genome.wustl.edu 37 11 17522622 17522622 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 17522622 17522622 C G SNP USH1C ENST00000005226 human ensembl 70_37 -1 known missense c.2356 p.E786Q 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC USH1C 10083 genome.wustl.edu 37 11 17522649 17522649 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 17522649 17522649 C A SNP USH1C ENST00000005226 human ensembl 70_37 -1 known missense c.2329 p.G777W 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC USH2A 7399 genome.wustl.edu 37 1 215953249 215953249 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 215953249 215953249 G C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.10875 p.I3625M 0.938 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USH2A 7399 genome.wustl.edu 37 1 216497640 216497640 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 216497640 216497640 G C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.1198 p.Q400E 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USP17L2 377630 genome.wustl.edu 37 8 11995849 11995849 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 11995849 11995849 G A SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.421 p.H141Y 0.632 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC USP17L2 377630 genome.wustl.edu 37 8 11996239 11996239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 11996239 11996239 C G SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.573 NULL pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC USP31 57478 genome.wustl.edu 37 16 23119422 23119422 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 23119422 23119422 C A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.716 p.R239L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC USP43 124739 genome.wustl.edu 37 17 9603499 9603499 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 9603499 9603499 C T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1468 p.L490F 0.996 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC USP48 84196 genome.wustl.edu 37 1 22056230 22056230 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22056230 22056230 G C SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1267 p.Q423E 0.526 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC USP48 84196 genome.wustl.edu 37 1 22056234 22056234 + Silent SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22056234 22056234 T C SNP USP48 ENST00000308271 human ensembl 70_37 -1 known silent c.1263 p.Q421 0.435 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC USP50 373509 genome.wustl.edu 37 15 50833424 50833424 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 50833424 50833424 G C SNP USP50 ENST00000532404 human ensembl 70_37 -1 known missense c.482 p.S161C 0.006 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP50 HGNC USPL1 10208 genome.wustl.edu 37 13 31232866 31232866 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 31232866 31232866 G C SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known missense c.2652 p.Q884H 0.996 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC UTP14A 10813 genome.wustl.edu 37 X 129055461 129055461 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 129055461 129055461 G C SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known missense c.1246 p.E416Q 0.023 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC UTP23 84294 genome.wustl.edu 37 8 117861161 117861161 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 117861161 117861161 C A SNP UTP23 ENST00000517820 human ensembl 70_37 +1 putative missense c.223 p.P75T 0.000 NULL NULL - no_errors UTP23 HGNC VANGL2 57216 genome.wustl.edu 37 1 160393995 160393995 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160393995 160393995 C T SNP VANGL2 ENST00000368061 human ensembl 70_37 +1 known silent c.1227 p.T409 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC VASH2 79805 genome.wustl.edu 37 1 213125052 213125052 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 213125052 213125052 C T SNP VASH2 ENST00000517399 human ensembl 70_37 +1 known silent c.168 p.F56 1.000 NULL NULL - no_errors VASH2 HGNC VASN 114990 genome.wustl.edu 37 16 4431256 4431256 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4431256 4431256 C T SNP VASN ENST00000304735 human ensembl 70_37 +1 known silent c.378 p.L126 0.058 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC VCAN 1462 genome.wustl.edu 37 5 82817006 82817006 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82817006 82817006 C G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.2881 p.Q961E 0.990 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VCAN 1462 genome.wustl.edu 37 5 82836182 82836182 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82836182 82836182 G A SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.7360 p.E2454K 0.027 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VCPIP1 80124 genome.wustl.edu 37 8 67579043 67579043 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 67579043 67579043 C G SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.151 p.D51H 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC VEGFC 7424 genome.wustl.edu 37 4 177713327 177713327 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 177713327 177713327 C G SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.139 p.E47Q 0.963 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC VLDLR 7436 genome.wustl.edu 37 9 2643322 2643322 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 2643322 2643322 C G SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known missense c.611 p.S204C 0.976 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC VMO1 284013 genome.wustl.edu 37 17 4688890 4688890 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4688890 4688890 G A SNP VMO1 ENST00000328739 human ensembl 70_37 -1 known missense c.376 p.R126C 0.916 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC VMO1 284013 genome.wustl.edu 37 17 4689317 4689317 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4689317 4689317 C T SNP VMO1 ENST00000328739 human ensembl 70_37 -1 known missense c.226 p.D76N 0.997 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC VN1R1 57191 genome.wustl.edu 37 19 57967758 57967758 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 57967758 57967758 G C SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.97 p.Q33E 0.000 NULL pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC VNN3 55350 genome.wustl.edu 37 6 133045852 133045852 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 133045852 133045852 G C SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.1093 p.L365V 0.993 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC VPS13B 157680 genome.wustl.edu 37 8 100147948 100147948 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 100147948 100147948 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.1550 p.S517L 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS13B 157680 genome.wustl.edu 37 8 100844848 100844848 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 100844848 100844848 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.9657 p.L3219 0.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS13C 54832 genome.wustl.edu 37 15 62212712 62212712 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 62212712 62212712 G C SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.7197 p.F2399L 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS52 6293 genome.wustl.edu 37 6 33239313 33239313 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33239313 33239313 G A SNP VPS52 ENST00000482399 human ensembl 70_37 -1 putative missense c.140 p.S47L 0.001 NULL NULL - no_errors VPS52 HGNC VTA1 51534 genome.wustl.edu 37 6 142519611 142519611 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 142519611 142519611 C T SNP VTA1 ENST00000367630 human ensembl 70_37 +1 known silent c.556 p.L186 0.712 NULL NULL - no_errors VTA1 HGNC VTI1A 143187 genome.wustl.edu 37 10 114287026 114287026 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 114287026 114287026 C T SNP VTI1A ENST00000480057 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VTI1A HGNC VTRNA2-1 100126299 genome.wustl.edu 37 5 135416194 135416194 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 135416194 135416194 C T SNP VTRNA2-1 ENST00000365160 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors VTRNA2-1 HGNC VTRNA2-1 100126299 genome.wustl.edu 37 5 135416242 135416242 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 135416242 135416242 G C SNP VTRNA2-1 ENST00000365160 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors VTRNA2-1 HGNC VWCE 220001 genome.wustl.edu 37 11 61049276 61049276 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 61049276 61049276 C G SNP VWCE ENST00000335613 human ensembl 70_37 -1 known missense c.769 p.D257H 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC VWF 7450 genome.wustl.edu 37 12 6128108 6128108 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6128108 6128108 C T SNP VWF ENST00000261405 human ensembl 70_37 -1 known silent c.4476 p.R1492 0.001 pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC VWF 7450 genome.wustl.edu 37 12 6230362 6230362 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6230362 6230362 C G SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.198 p.Q66H 0.904 pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC WAC 51322 genome.wustl.edu 37 10 28821934 28821934 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 28821934 28821934 G T SNP WAC ENST00000528491 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WAC HGNC WAPAL 23063 genome.wustl.edu 37 10 88196033 88196033 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 88196033 88196033 C T SNP WAPAL ENST00000484070 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WAPAL HGNC WBP11P1 441818 genome.wustl.edu 37 18 30092482 30092482 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 30092482 30092482 C T SNP WBP11P1 ENST00000567636 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors WBP11P1 HGNC WBSCR17 64409 genome.wustl.edu 37 7 70853384 70853384 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 70853384 70853384 G A SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.586 p.E196K 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC WDFY4 57705 genome.wustl.edu 37 10 49917830 49917830 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 49917830 49917830 C G SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.53 p.S18C 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR11 55717 genome.wustl.edu 37 10 122633397 122633397 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 122633397 122633397 G C SNP WDR11 ENST00000263461 human ensembl 70_37 +1 known silent c.1518 p.L506 0.961 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC WDR13 64743 genome.wustl.edu 37 X 48462652 48462652 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48462652 48462652 C T SNP WDR13 ENST00000492873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR13 HGNC WDR31 114987 genome.wustl.edu 37 9 116093370 116093370 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116093370 116093370 C T SNP WDR31 ENST00000374193 human ensembl 70_37 -1 known missense c.143 p.R48K 0.014 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR31 HGNC WDR43 23160 genome.wustl.edu 37 2 29147999 29147999 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 29147999 29147999 C T SNP WDR43 ENST00000407426 human ensembl 70_37 +1 known nonsense c.1066 p.Q356* 1.000 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC WDR45 11152 genome.wustl.edu 37 X 48932470 48932470 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48932470 48932470 C T SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.1108 p.D370N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC WDR52 55779 genome.wustl.edu 37 3 113063421 113063421 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113063421 113063421 G C SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.3204 p.S1068R 0.945 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC WDR52 55779 genome.wustl.edu 37 3 113063537 113063537 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113063537 113063537 C G SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.3088 p.D1030H 0.934 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC WDR54 84058 genome.wustl.edu 37 2 74652559 74652559 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 74652559 74652559 G T SNP WDR54 ENST00000348227 human ensembl 70_37 +1 known nonsense c.814 p.E272* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC WDR63 126820 genome.wustl.edu 37 1 85560159 85560159 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 85560159 85560159 G C SNP WDR63 ENST00000294664 human ensembl 70_37 +1 known missense c.1094 p.R365T 0.603 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC WDR65 149465 genome.wustl.edu 37 1 43675438 43675438 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 43675438 43675438 G C SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.1780 p.D594H 0.998 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC WDR66 144406 genome.wustl.edu 37 12 122361672 122361672 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 122361672 122361672 G A SNP WDR66 ENST00000288912 human ensembl 70_37 +1 known missense c.523 p.E175K 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC WDR70 55100 genome.wustl.edu 37 5 37701239 37701239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37701239 37701239 C G SNP WDR70 ENST00000265107 human ensembl 70_37 +1 known missense c.1272 p.F424L 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC WDR75 84128 genome.wustl.edu 37 2 190324117 190324117 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 190324117 190324117 G C SNP WDR75 ENST00000314761 human ensembl 70_37 +1 known missense c.745 p.D249H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC DPH7 92715 genome.wustl.edu 37 9 140451184 140451184 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140451184 140451184 C T SNP WDR85 ENST00000497237 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR85 HGNC WDR87 83889 genome.wustl.edu 37 19 38382241 38382241 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38382241 38382241 G C SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.3345 p.I1115M 0.018 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WDR87 83889 genome.wustl.edu 37 19 38382299 38382299 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38382299 38382299 G C SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.3287 p.S1096C 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WDTC1 23038 genome.wustl.edu 37 1 27622829 27622829 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27622829 27622829 G C SNP WDTC1 ENST00000319394 human ensembl 70_37 +1 known missense c.886 p.D296H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC WFIKKN2 124857 genome.wustl.edu 37 17 48917537 48917537 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48917537 48917537 G A SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known silent c.888 p.L296 0.156 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC WHSC1L1 54904 genome.wustl.edu 37 8 38172265 38172265 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38172265 38172265 C T SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known silent c.2142 p.L714 0.931 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC WIZ 58525 genome.wustl.edu 37 19 15547730 15547730 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15547730 15547730 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2483 p.R828Q 0.190 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WNK1 65125 genome.wustl.edu 37 12 1005527 1005527 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 1005527 1005527 C G SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.7368 p.F2456L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC WNK3 65267 genome.wustl.edu 37 X 54228426 54228426 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 54228426 54228426 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.5071 p.E1691K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WNT5A 7474 genome.wustl.edu 37 3 55504101 55504101 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 55504101 55504101 G C SNP WNT5A ENST00000493406 human ensembl 70_37 -1 known rna NULL NULL 0.139 - - - no_errors WNT5A HGNC WNT8A 7478 genome.wustl.edu 37 5 137420241 137420241 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 137420241 137420241 G A SNP WNT8A ENST00000361560 human ensembl 70_37 +1 known missense c.157 p.E53K 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC WRNIP1 56897 genome.wustl.edu 37 6 2770431 2770431 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 2770431 2770431 C G SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1092 p.V364 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC WSCD2 9671 genome.wustl.edu 37 12 108600142 108600142 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 108600142 108600142 G C SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known missense c.459 p.K153N 1.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC WWC1 23286 genome.wustl.edu 37 5 167851052 167851052 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 167851052 167851052 G C SNP WWC1 ENST00000265293 human ensembl 70_37 +1 known missense c.1789 p.E597Q 0.557 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 WWC1 HGNC WWC2 80014 genome.wustl.edu 37 4 184182427 184182427 + Missense_Mutation SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 184182427 184182427 T C SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.1651 p.S551P 1.000 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 73047228 73047228 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 73047228 73047228 C G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.255 - - - no_errors XIST HGNC XPA 7507 genome.wustl.edu 37 9 100447309 100447309 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100447309 100447309 G A SNP XPA ENST00000375128 human ensembl 70_37 -1 known missense c.569 p.S190F 1.000 superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC XPA 7507 genome.wustl.edu 37 9 100449429 100449429 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100449429 100449429 C T SNP XPA ENST00000375128 human ensembl 70_37 -1 known silent c.504 p.K168 1.000 pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC XPNPEP1 7511 genome.wustl.edu 37 10 111624695 111624695 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 111624695 111624695 G C SNP XPNPEP1 ENST00000502895 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XPNPEP1 HGNC XPNPEP1 7511 genome.wustl.edu 37 10 111637621 111637621 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 111637621 111637621 G A SNP XPNPEP1 ENST00000502935 human ensembl 70_37 -1 known nonsense c.1246 p.Q416* 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC XPNPEP2 7512 genome.wustl.edu 37 X 128885728 128885728 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 128885728 128885728 C G SNP XPNPEP2 ENST00000371106 human ensembl 70_37 +1 known missense c.747 p.F249L 1.000 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC XPO5 57510 genome.wustl.edu 37 6 43492253 43492253 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43492253 43492253 G A SNP XPO5 ENST00000265351 human ensembl 70_37 -1 known missense c.3433 p.R1145C 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC XPR1 9213 genome.wustl.edu 37 1 180843068 180843068 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 180843068 180843068 G A SNP XPR1 ENST00000367590 human ensembl 70_37 +1 known missense c.1798 p.E600K 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC XRCC4 7518 genome.wustl.edu 37 5 82606692 82606692 + RNA SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82606692 82606692 A G SNP XRCC4 ENST00000542685 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors XRCC4 HGNC XRCC5 7520 genome.wustl.edu 37 2 217002874 217002874 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 217002874 217002874 G A SNP XRCC5 ENST00000392132 human ensembl 70_37 +1 known silent c.1314 p.L438 1.000 pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku - no_errors XRCC5 HGNC YEATS2 55689 genome.wustl.edu 37 3 183476669 183476669 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183476669 183476669 C T SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known silent c.1572 p.I524 0.973 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC YIPF1 54432 genome.wustl.edu 37 1 54354631 54354631 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 54354631 54354631 C G SNP YIPF1 ENST00000539954 human ensembl 70_37 -1 known missense c.55 p.G19R 0.082 NULL pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC YIPF3 25844 genome.wustl.edu 37 6 43483734 43483734 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43483734 43483734 C T SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known missense c.181 p.E61K 1.000 NULL NULL - no_errors YIPF3 HGNC YJEFN3 374887 genome.wustl.edu 37 19 19638154 19638154 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 19638154 19638154 G T SNP YJEFN3 ENST00000553705 human ensembl 70_37 +1 known missense c.238 p.D80Y 0.995 pfam_GRIM-19 pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors YJEFN3 HGNC YLPM1 56252 genome.wustl.edu 37 14 75277119 75277119 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 75277119 75277119 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.5224 p.D1742N 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename YTHDC2 64848 genome.wustl.edu 37 5 112868672 112868672 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 112868672 112868672 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.772 p.E258K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112868725 112868725 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 112868725 112868725 G C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.825 p.Q275H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC YTHDF2 51441 genome.wustl.edu 37 1 29064809 29064809 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 29064809 29064809 G A SNP YTHDF2 ENST00000373812 human ensembl 70_37 +1 known missense c.91 p.D31N 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC YTHDF3 253943 genome.wustl.edu 37 8 64123780 64123780 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 64123780 64123780 C T SNP YTHDF3 ENST00000517371 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors YTHDF3 HGNC YWHAH 7533 genome.wustl.edu 37 22 32352575 32352575 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 32352575 32352575 C T SNP YWHAH ENST00000248975 human ensembl 70_37 +1 known silent c.537 p.F179 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAH HGNC ZAN 7455 genome.wustl.edu 37 7 100331801 100331801 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100331801 100331801 C G SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.10 p.P4A 0.696 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZAR1 326340 genome.wustl.edu 37 4 48494963 48494963 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48494963 48494963 C T SNP ZAR1 ENST00000327939 human ensembl 70_37 +1 known silent c.1065 p.F355 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ZAR1 HGNC ZBED1 9189 genome.wustl.edu 37 X 2408336 2408336 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 2408336 2408336 G A SNP ZBED1 ENST00000381218 human ensembl 70_37 -1 known missense c.425 p.S142F 0.953 NULL pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ZBED6 100381270 genome.wustl.edu 37 1 203767786 203767786 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 203767786 203767786 C G SNP ZBED6 ENST00000550078 human ensembl 70_37 +1 known missense c.1136 p.S379C 1.000 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED6 HGNC ZBED6 100381270 genome.wustl.edu 37 1 203768069 203768069 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 203768069 203768069 G C SNP ZBED6 ENST00000550078 human ensembl 70_37 +1 known missense c.1419 p.E473D 1.000 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED6 HGNC ZBTB20 26137 genome.wustl.edu 37 3 114057933 114057933 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 114057933 114057933 G A SNP ZBTB20 ENST00000474710 human ensembl 70_37 -1 known silent c.2145 p.Y715 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ZBTB20 26137 genome.wustl.edu 37 3 114069347 114069347 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 114069347 114069347 G C SNP ZBTB20 ENST00000474710 human ensembl 70_37 -1 known missense c.1578 p.F526L 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ZBTB37 84614 genome.wustl.edu 37 1 173839612 173839612 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 173839612 173839612 C G SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known silent c.249 p.L83 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ZBTB4 57659 genome.wustl.edu 37 17 7365840 7365840 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7365840 7365840 C G SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known missense c.2461 p.E821Q 0.998 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ZBTB42 100128927 genome.wustl.edu 37 14 105268691 105268691 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105268691 105268691 G A SNP ZBTB42 ENST00000342537 human ensembl 70_37 +1 known missense c.1157 p.R386Q 0.995 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB42 HGNC ZBTB44 29068 genome.wustl.edu 37 11 130103259 130103259 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 130103259 130103259 C A SNP ZBTB44 ENST00000357899 human ensembl 70_37 -1 known nonsense c.1705 p.E569* 0.142 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ZBTB6 10773 genome.wustl.edu 37 9 125673859 125673859 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 125673859 125673859 C T SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known missense c.493 p.E165K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ZC3H12A 80149 genome.wustl.edu 37 1 37941279 37941279 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 37941279 37941279 C A SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known nonsense c.182 p.S61* 0.999 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ZC3H12C 85463 genome.wustl.edu 37 11 110035239 110035239 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 110035239 110035239 G A SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known missense c.1429 p.D477N 0.995 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ZC3H13 23091 genome.wustl.edu 37 13 46531324 46531324 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 46531324 46531324 C G SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.4945 p.E1649Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ZC3H6 376940 genome.wustl.edu 37 2 113079381 113079381 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113079381 113079381 G C SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.1025 p.G342A 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ZC3H7B 23264 genome.wustl.edu 37 22 41745257 41745257 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 41745257 41745257 G T SNP ZC3H7B ENST00000351589 human ensembl 70_37 +1 known missense c.1900 p.A634S 1.000 smart_Znf_CCCH pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ZC3HC1 51530 genome.wustl.edu 37 7 129688889 129688889 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 129688889 129688889 C G SNP ZC3HC1 ENST00000358303 human ensembl 70_37 -1 known missense c.242 p.R81T 1.000 pfam_Znf_C3HC-like pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207170423 207170423 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 207170423 207170423 G A SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.1171 p.E391K 0.067 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207173526 207173526 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 207173526 207173526 C G SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4274 p.S1425C 0.006 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 756160 756160 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 756160 756160 G A SNP ZDHHC11B ENST00000382776 human ensembl 70_37 -1 known nonsense c.322 p.Q108* 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ZDHHC19 131540 genome.wustl.edu 37 3 195935261 195935261 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195935261 195935261 G C SNP ZDHHC19 ENST00000296326 human ensembl 70_37 -1 known missense c.579 p.I193M 0.032 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ZDHHC3 51304 genome.wustl.edu 37 3 44959380 44959380 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44959380 44959380 G C SNP ZDHHC3 ENST00000466084 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ZDHHC3 HGNC ZDHHC8P1 150244 genome.wustl.edu 37 22 23742709 23742709 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 23742709 23742709 G C SNP ZDHHC8P1 ENST00000255890 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZDHHC8P1 HGNC ZFAT 57623 genome.wustl.edu 37 8 135600571 135600571 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 135600571 135600571 C G SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.2631 p.K877N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ZFAT 57623 genome.wustl.edu 37 8 135649857 135649857 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 135649857 135649857 C T SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.295 p.E99K 0.127 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ZFHX2 85446 genome.wustl.edu 37 14 23995850 23995850 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 23995850 23995850 G C SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.3301 p.L1101V 0.959 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ZFP36 7538 genome.wustl.edu 37 19 39898437 39898437 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39898437 39898437 G C SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.97 p.E33Q 0.210 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ZFP36 7538 genome.wustl.edu 37 19 39898586 39898586 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39898586 39898586 C G SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.246 p.F82L 0.378 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ZFP37 7539 genome.wustl.edu 37 9 115805337 115805337 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 115805337 115805337 G A SNP ZFP37 ENST00000553380 human ensembl 70_37 -1 known nonsense c.1606 p.Q536* 0.537 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 ZFP37 HGNC ZFP41 286128 genome.wustl.edu 37 8 144332331 144332331 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144332331 144332331 G C SNP ZFP41 ENST00000330701 human ensembl 70_37 +1 known missense c.318 p.Q106H 0.940 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ZFYVE1 53349 genome.wustl.edu 37 14 73441663 73441663 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 73441663 73441663 C T SNP ZFYVE1 ENST00000553891 human ensembl 70_37 -1 known missense c.1811 p.C604Y 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ZFYVE16 9765 genome.wustl.edu 37 5 79734302 79734302 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 79734302 79734302 G C SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.1798 p.D600H 0.959 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ZFYVE28 57732 genome.wustl.edu 37 4 2307235 2307235 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2307235 2307235 C T SNP ZFYVE28 ENST00000290974 human ensembl 70_37 -1 known missense c.832 p.E278K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ZG16B 124220 genome.wustl.edu 37 16 2881978 2881978 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2881978 2881978 G C SNP ZG16B ENST00000382280 human ensembl 70_37 +1 known missense c.445 p.D149H 0.000 superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin - no_errors ZG16B HGNC ZMAT4 79698 genome.wustl.edu 37 8 40554830 40554830 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 40554830 40554830 G C SNP ZMAT4 ENST00000297737 human ensembl 70_37 -1 known missense c.283 p.Q95E 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ZMIZ2 83637 genome.wustl.edu 37 7 44796622 44796622 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44796622 44796622 C T SNP ZMIZ2 ENST00000309315 human ensembl 70_37 +1 known missense c.242 p.S81F 0.676 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ZMYM6 9204 genome.wustl.edu 37 1 35469541 35469541 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 35469541 35469541 C G SNP ZMYM6 ENST00000466345 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZMYM6 HGNC ZNF136 7695 genome.wustl.edu 37 19 12297438 12297438 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12297438 12297438 G A SNP ZNF136 ENST00000343979 human ensembl 70_37 +1 known missense c.245 p.G82E 0.000 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 ZNF136 HGNC ZNF136 7695 genome.wustl.edu 37 19 12298265 12298265 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12298265 12298265 C G SNP ZNF136 ENST00000343979 human ensembl 70_37 +1 known missense c.1072 p.H358D 0.996 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 ZNF136 HGNC ZNF182 7569 genome.wustl.edu 37 X 47842379 47842379 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 47842379 47842379 C T SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.259 p.E87K 0.645 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 ZNF182 HGNC ZNF214 7761 genome.wustl.edu 37 11 7022556 7022556 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 7022556 7022556 C G SNP ZNF214 ENST00000278314 human ensembl 70_37 -1 known missense c.358 p.E120Q 0.013 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF214 HGNC ZNF215 7762 genome.wustl.edu 37 11 6953894 6953894 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6953894 6953894 G C SNP ZNF215 ENST00000278319 human ensembl 70_37 +1 known missense c.391 p.E131Q 0.009 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ZNF219 51222 genome.wustl.edu 37 14 21561008 21561008 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21561008 21561008 C G SNP ZNF219 ENST00000360947 human ensembl 70_37 -1 known missense c.448 p.E150Q 0.785 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept - no_errors ZNF219 HGNC ZNF22 7570 genome.wustl.edu 37 10 45499194 45499194 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 45499194 45499194 C A SNP ZNF22 ENST00000298299 human ensembl 70_37 +1 known silent c.378 p.L126 0.961 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF22 HGNC ZNF23 7571 genome.wustl.edu 37 16 71481924 71481924 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 71481924 71481924 C G SNP ZNF23 ENST00000539742 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF23 HGNC ZNF236 7776 genome.wustl.edu 37 18 74639327 74639327 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 74639327 74639327 C G SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.4262 p.S1421C 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF280D 54816 genome.wustl.edu 37 15 56996336 56996336 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 56996336 56996336 G A SNP ZNF280D ENST00000267807 human ensembl 70_37 -1 known missense c.158 p.S53L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ZNF286B 729288 genome.wustl.edu 37 17 18565291 18565291 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18565291 18565291 G C SNP ZNF286B ENST00000545289 human ensembl 70_37 -1 known missense c.1528 p.L510V 0.960 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF286B HGNC ZNF302 55900 genome.wustl.edu 37 19 35176024 35176024 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 35176024 35176024 G A SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known missense c.1082 p.R361K 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF302 HGNC ZNF320 162967 genome.wustl.edu 37 19 53382788 53382788 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53382788 53382788 C G SNP ZNF320 ENST00000598199 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF320 HGNC ZNF321P 399669 genome.wustl.edu 37 19 53432341 53432341 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53432341 53432341 C G SNP ZNF321P ENST00000391777 human ensembl 70_37 -1 known missense c.517 p.E173Q 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF321P HGNC ZNF33B 7582 genome.wustl.edu 37 10 43078391 43078391 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 43078391 43078391 C G SNP ZNF33B ENST00000465206 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF33B HGNC ZNF347 84671 genome.wustl.edu 37 19 53644319 53644319 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53644319 53644319 G A SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known missense c.1765 p.R589W 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ZNF382 84911 genome.wustl.edu 37 19 37101590 37101590 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37101590 37101590 G A SNP ZNF382 ENST00000292928 human ensembl 70_37 +1 known missense c.178 p.E60K 1.000 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 ZNF382 HGNC ZNF383 163087 genome.wustl.edu 37 19 37733787 37733787 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37733787 37733787 C T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known silent c.649 p.L217 0.869 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 ZNF383 HGNC ZNF383 163087 genome.wustl.edu 37 19 37734033 37734033 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37734033 37734033 C T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known nonsense c.895 p.Q299* 0.041 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 ZNF383 HGNC ZNF394 84124 genome.wustl.edu 37 7 99096390 99096390 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 99096390 99096390 C T SNP ZNF394 ENST00000337673 human ensembl 70_37 -1 known missense c.532 p.D178N 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ZNF397 84307 genome.wustl.edu 37 18 32823310 32823310 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 32823310 32823310 G C SNP ZNF397 ENST00000585800 human ensembl 70_37 +1 known missense c.609 p.L203F 0.083 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ZNF418 147686 genome.wustl.edu 37 19 58439073 58439073 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58439073 58439073 G C SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known missense c.476 p.S159C 0.001 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 ZNF418 HGNC ZNF45 7596 genome.wustl.edu 37 19 44418649 44418649 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 44418649 44418649 G A SNP ZNF45 ENST00000269973 human ensembl 70_37 -1 known silent c.939 p.F313 0.620 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 ZNF45 HGNC ZNF468 90333 genome.wustl.edu 37 19 53344528 53344528 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53344528 53344528 G A SNP ZNF468 ENST00000595646 human ensembl 70_37 -1 known missense c.1019 p.S340L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF468 HGNC ZNF469 84627 genome.wustl.edu 37 16 88499327 88499327 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88499327 88499327 C G SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known missense c.5365 p.L1789V 0.741 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ZNF470 388566 genome.wustl.edu 37 19 57088188 57088188 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 57088188 57088188 G C SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.391 p.E131Q 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 ZNF470 HGNC ZNF483 158399 genome.wustl.edu 37 9 114304503 114304503 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 114304503 114304503 G A SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.1288 p.E430K 0.106 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ZNF485 220992 genome.wustl.edu 37 10 44112470 44112470 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 44112470 44112470 C G SNP ZNF485 ENST00000361807 human ensembl 70_37 +1 known missense c.979 p.H327D 0.709 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 ZNF485 HGNC ZNF524 147807 genome.wustl.edu 37 19 56113740 56113740 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56113740 56113740 G C SNP ZNF524 ENST00000301073 human ensembl 70_37 +1 known missense c.262 p.D88H 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ZNF530 348327 genome.wustl.edu 37 19 58117124 58117124 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58117124 58117124 G A SNP ZNF530 ENST00000332854 human ensembl 70_37 +1 known silent c.231 p.Q77 0.013 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 ZNF530 HGNC ZNF536 9745 genome.wustl.edu 37 19 31039383 31039383 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 31039383 31039383 G C SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2857 p.D953H 0.638 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF544 27300 genome.wustl.edu 37 19 58772823 58772823 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58772823 58772823 C G SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.851 p.S284C 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 ZNF544 HGNC ZNF568 374900 genome.wustl.edu 37 19 37441179 37441179 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37441179 37441179 C T SNP ZNF568 ENST00000333987 human ensembl 70_37 +1 known missense c.1124 p.S375L 0.014 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 ZNF568 HGNC ZNF577 84765 genome.wustl.edu 37 19 52376893 52376893 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52376893 52376893 G C SNP ZNF577 ENST00000301399 human ensembl 70_37 -1 known nonsense c.350 p.S117* 0.001 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 ZNF577 HGNC ZNF586 54807 genome.wustl.edu 37 19 58290557 58290557 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58290557 58290557 C T SNP ZNF586 ENST00000396154 human ensembl 70_37 +1 known missense c.602 p.S201F 0.984 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 ZNF586 HGNC ZNF607 84775 genome.wustl.edu 37 19 38189966 38189966 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38189966 38189966 G C SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known missense c.1066 p.H356D 0.042 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 ZNF607 HGNC ZNF608 57507 genome.wustl.edu 37 5 123984271 123984271 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 123984271 123984271 C G SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.1806 p.L602F 0.134 NULL NULL - no_errors ZNF608 HGNC ZNF609 23060 genome.wustl.edu 37 15 64973556 64973556 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 64973556 64973556 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known nonsense c.4211 p.S1404* 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ZNF613 79898 genome.wustl.edu 37 19 52443470 52443470 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52443470 52443470 G A SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known silent c.24 p.L8 0.308 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 ZNF613 HGNC ZNF615 284370 genome.wustl.edu 37 19 52498037 52498037 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52498037 52498037 G C SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.325 p.Q109E 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 ZNF615 HGNC ZNF629 23361 genome.wustl.edu 37 16 30793806 30793806 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30793806 30793806 G A SNP ZNF629 ENST00000262525 human ensembl 70_37 -1 known nonsense c.1843 p.R615* 0.022 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ZNF630 57232 genome.wustl.edu 37 X 47917923 47917923 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 47917923 47917923 G A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known silent c.1908 p.F636 0.631 smart_Znf_C2H2-like 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 ZNF630 HGNC ZNF638 27332 genome.wustl.edu 37 2 71658313 71658313 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 71658313 71658313 G C SNP ZNF638 ENST00000488126 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF638 HGNC ZNF649 65251 genome.wustl.edu 37 19 52394042 52394042 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52394042 52394042 C G SNP ZNF649 ENST00000354957 human ensembl 70_37 -1 known missense c.1347 p.K449N 0.256 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 ZNF649 HGNC ZNF665 79788 genome.wustl.edu 37 19 53669241 53669241 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53669241 53669241 C G SNP ZNF665 ENST00000396424 human ensembl 70_37 -1 known missense c.502 p.E168Q 0.044 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 ZNF665 HGNC ZNF682 91120 genome.wustl.edu 37 19 20150174 20150174 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 20150174 20150174 C A SNP ZNF682 ENST00000599240 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF682 HGNC ZNF750 79755 genome.wustl.edu 37 17 80789562 80789563 + Frame_Shift_Ins INS - - GTAGATGGGG TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 80789562 80789563 - GTAGATGGGG INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.769_768 p.S256fs 0.902:0.927 NULL NULL - no_errors ZNF750 HGNC ZNF773 374928 genome.wustl.edu 37 19 58017749 58017749 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58017749 58017749 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.286 p.E96Q 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 ZNF773 HGNC ZNF778 197320 genome.wustl.edu 37 16 89293162 89293162 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89293162 89293162 G A SNP ZNF778 ENST00000433976 human ensembl 70_37 +1 known missense c.382 p.E128K 0.006 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 ZNF778 HGNC ZNF784 147808 genome.wustl.edu 37 19 56133131 56133131 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56133131 56133131 C G SNP ZNF784 ENST00000325351 human ensembl 70_37 -1 known missense c.958 p.E320Q 0.368 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ZNF8 7554 genome.wustl.edu 37 19 58805481 58805481 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58805481 58805481 G C SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.307 p.E103Q 0.004 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 ZNF8 HGNC ZNF814 730051 genome.wustl.edu 37 19 58400325 58400325 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58400325 58400325 C T SNP ZNF814 ENST00000594629 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF814 HGNC ZNF830 91603 genome.wustl.edu 37 17 33289069 33289069 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33289069 33289069 G C SNP ZNF830 ENST00000361952 human ensembl 70_37 +1 known missense c.484 p.E162Q 1.000 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ZNF836 162962 genome.wustl.edu 37 19 52658907 52658907 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52658907 52658907 G C SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.2029 p.Q677E 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 ZNF836 HGNC ZNF836 162962 genome.wustl.edu 37 19 52659714 52659714 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52659714 52659714 G A SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.1222 p.H408Y 0.995 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 ZNF836 HGNC ZNF841 284371 genome.wustl.edu 37 19 52569952 52569952 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52569952 52569952 G A SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known missense c.1183 p.H395Y 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ZNF91 7644 genome.wustl.edu 37 19 23544415 23544415 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 23544415 23544415 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.1366 p.H456Y 0.994 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 ZNF91 HGNC ZNF92 168374 genome.wustl.edu 37 7 64863490 64863490 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 64863490 64863490 C T SNP ZNF92 ENST00000328747 human ensembl 70_37 +1 known missense c.463 p.H155Y 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 ZNF92 HGNC ZNRD1-AS1 80862 genome.wustl.edu 37 6 30003625 30003625 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30003625 30003625 C T SNP ZNRD1-AS1 ENST00000421692 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ZNRD1-AS1 HGNC ZPBP2 124626 genome.wustl.edu 37 17 38028610 38028610 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38028610 38028610 G C SNP ZPBP2 ENST00000348931 human ensembl 70_37 +1 known missense c.494 p.R165T 0.968 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP2 HGNC ZSCAN10 84891 genome.wustl.edu 37 16 3140190 3140190 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3140190 3140190 C G SNP ZSCAN10 ENST00000252463 human ensembl 70_37 -1 known missense c.1080 p.Q360H 0.914 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN10 HGNC ZSCAN21 7589 genome.wustl.edu 37 7 99661584 99661584 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 99661584 99661584 G C SNP ZSCAN21 ENST00000292450 human ensembl 70_37 +1 known missense c.766 p.E256Q 0.015 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ZSCAN5C 649137 genome.wustl.edu 37 19 56720231 56720231 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56720231 56720231 C T SNP ZSCAN5C ENST00000376267 human ensembl 70_37 +1 known nonsense c.1153 p.Q385* 0.076 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ZSWIM5 57643 genome.wustl.edu 37 1 45524287 45524287 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45524287 45524287 C G SNP ZSWIM5 ENST00000359600 human ensembl 70_37 -1 known missense c.1246 p.E416Q 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ZSWIM5 57643 genome.wustl.edu 37 1 45671717 45671717 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45671717 45671717 G A SNP ZSWIM5 ENST00000359600 human ensembl 70_37 -1 known silent c.306 p.F102 0.997 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ZSWIM6 57688 genome.wustl.edu 37 5 60834734 60834734 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60834734 60834734 C T SNP ZSWIM6 ENST00000252744 human ensembl 70_37 +1 known silent c.2475 p.F825 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ZYG11A 440590 genome.wustl.edu 37 1 53323227 53323227 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53323227 53323227 G C SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.814 p.D272H 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ZZEF1 23140 genome.wustl.edu 37 17 3999949 3999949 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 3999949 3999949 G C SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known missense c.1718 p.S573C 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC