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 ABLIM1 3983 genome.wustl.edu 37 10 116203811 116203811 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 116203811 116203811 C T SNP ABLIM1 ENST00000277895 human ensembl 70_37 -1 known missense c.2114 p.R705H 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ABLIM1 3983 genome.wustl.edu 37 10 116203811 116203811 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 116203811 116203811 C T SNP ABLIM1 ENST00000277895 human ensembl 70_37 -1 known missense c.2114 p.R705H 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ACAD9 28976 genome.wustl.edu 37 3 128598506 128598506 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 128598506 128598506 G C SNP ACAD9 ENST00000505602 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors ACAD9 HGNC ACAD9 28976 genome.wustl.edu 37 3 128598506 128598506 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 128598506 128598506 G C SNP ACAD9 ENST00000505602 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors ACAD9 HGNC ACP5 54 genome.wustl.edu 37 19 11685947 11685947 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 11685947 11685947 C T SNP ACP5 ENST00000218758 human ensembl 70_37 -1 known missense c.856 p.E286K 0.004 NULL pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ACP5 54 genome.wustl.edu 37 19 11685947 11685947 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 11685947 11685947 C T SNP ACP5 ENST00000218758 human ensembl 70_37 -1 known missense c.856 p.E286K 0.004 NULL pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ACR 49 genome.wustl.edu 37 22 51183025 51183025 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 51183025 51183025 C G SNP ACR ENST00000527761 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ACR HGNC ACTN1 87 genome.wustl.edu 37 14 69349243 69349243 + Nonsense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69349243 69349243 C A SNP ACTN1 ENST00000394419 human ensembl 70_37 -1 known nonsense c.1885 p.E629* 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ACTN1 87 genome.wustl.edu 37 14 69349243 69349243 + Nonsense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69349243 69349243 C A SNP ACTN1 ENST00000394419 human ensembl 70_37 -1 known nonsense c.1885 p.E629* 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ACTN1 87 genome.wustl.edu 37 14 69349983 69349983 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69349983 69349983 C G SNP ACTN1 ENST00000556343 human ensembl 70_37 -1 putative rna NULL NULL 0.018 - - - no_errors ACTN1 HGNC ACTN1 87 genome.wustl.edu 37 14 69350053 69350053 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69350053 69350053 C T SNP ACTN1 ENST00000556343 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ACTN1 HGNC ADRA1A 148 genome.wustl.edu 37 8 26721793 26721793 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 26721793 26721793 C A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known missense c.694 p.V232L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ADRA1A 148 genome.wustl.edu 37 8 26721793 26721793 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 26721793 26721793 C A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known missense c.694 p.V232L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC AGBL4-IT1 100874313 genome.wustl.edu 37 1 49840018 49840019 + Splice_Site INS - - A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 49840018 49840019 - A INS AGBL4-IT1 ENST00000457061 human ensembl 70_37 -1 known splice_site_ins c.NULL NULL 0.000:0.005 - - - no_errors AGBL4-IT1 HGNC AHDC1 27245 genome.wustl.edu 37 1 27860955 27860955 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 27860955 27860955 C T SNP AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AHDC1 HGNC ANK3 288 genome.wustl.edu 37 10 61847994 61847994 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 61847994 61847994 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.3451 p.G1151S 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 61847994 61847994 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 61847994 61847994 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.3451 p.G1151S 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 AOC4 90586 genome.wustl.edu 37 17 41021216 41021216 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 41021216 41021216 C G SNP AOC4 ENST00000562301 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AOC4 Clone_based_vega_gene ARID3A 1820 genome.wustl.edu 37 19 929434 929434 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 929434 929434 G A SNP ARID3A ENST00000585895 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors ARID3A HGNC ATP2A1 487 genome.wustl.edu 37 16 28913228 28913228 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 28913228 28913228 G C SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known missense c.2145 p.E715D 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr 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,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ATRX 546 genome.wustl.edu 37 X 76938875 76938875 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 76938875 76938875 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.1873 p.E625Q 0.305 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ATRX 546 genome.wustl.edu 37 X 76938875 76938875 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 76938875 76938875 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.1873 p.E625Q 0.305 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ATXN7L2 127002 genome.wustl.edu 37 1 110031523 110031523 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 110031523 110031523 G A SNP ATXN7L2 ENST00000369870 human ensembl 70_37 +1 known missense c.838 p.V280M 0.997 pfam_SCA7_dom pfam_SCA7_dom - no_errors ATXN7L2 HGNC ATXN7L2 127002 genome.wustl.edu 37 1 110031523 110031523 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 110031523 110031523 G A SNP ATXN7L2 ENST00000369870 human ensembl 70_37 +1 known missense c.838 p.V280M 0.997 pfam_SCA7_dom pfam_SCA7_dom - no_errors ATXN7L2 HGNC BCAT1 586 genome.wustl.edu 37 12 24987042 24987042 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 24987042 24987042 G A SNP BCAT1 ENST00000544418 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors BCAT1 HGNC BCL9 607 genome.wustl.edu 37 1 147091935 147091935 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147091935 147091935 G A SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.1974 p.M658I 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BCL9 607 genome.wustl.edu 37 1 147091935 147091935 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147091935 147091935 G A SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.1974 p.M658I 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BCL9 607 genome.wustl.edu 37 1 147092680 147092681 + Frame_Shift_Ins INS - - C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147092680 147092681 - C INS BCL9 ENST00000234739 human ensembl 70_37 +1 known frame_shift_ins c.2719_2720 p.V910fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BCL9 607 genome.wustl.edu 37 1 147092680 147092681 + Frame_Shift_Ins INS - - C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147092680 147092681 - C INS BCL9 ENST00000234739 human ensembl 70_37 +1 known frame_shift_ins c.2719_2720 p.V910fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BICC1 80114 genome.wustl.edu 37 10 60566844 60566844 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 60566844 60566844 C T SNP BICC1 ENST00000373886 human ensembl 70_37 +1 known missense c.2302 p.P768S 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC BICC1 80114 genome.wustl.edu 37 10 60566844 60566844 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 60566844 60566844 C T SNP BICC1 ENST00000373886 human ensembl 70_37 +1 known missense c.2302 p.P768S 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC C11orf57 55216 genome.wustl.edu 37 11 111948979 111948979 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 111948979 111948979 A C SNP C11orf57 ENST00000393047 human ensembl 70_37 +1 known missense c.110 p.E37A 1.000 NULL NULL - no_errors C11orf57 HGNC C11orf57 55216 genome.wustl.edu 37 11 111948979 111948979 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 111948979 111948979 A C SNP C11orf57 ENST00000393047 human ensembl 70_37 +1 known missense c.110 p.E37A 1.000 NULL NULL - no_errors C11orf57 HGNC C1orf61 10485 genome.wustl.edu 37 1 156382265 156382265 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 156382265 156382265 C T SNP C1orf61 ENST00000476966 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf61 HGNC C2orf68 388969 genome.wustl.edu 37 2 85838418 85838418 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 85838418 85838418 G A SNP C2orf68 ENST00000478626 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors C2orf68 HGNC C9orf117 286207 genome.wustl.edu 37 9 130475771 130475771 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 130475771 130475771 C G SNP C9orf117 ENST00000496009 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors C9orf117 HGNC C9orf117 286207 genome.wustl.edu 37 9 130475902 130475902 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 130475902 130475902 C T SNP C9orf117 ENST00000496009 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors C9orf117 HGNC CLCA4 22802 genome.wustl.edu 37 1 87038329 87038329 + Nonsense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 87038329 87038329 C T SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known nonsense c.1393 p.Q465* 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC CLCA4 22802 genome.wustl.edu 37 1 87038329 87038329 + Nonsense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 87038329 87038329 C T SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known nonsense c.1393 p.Q465* 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC CLEC11A 6320 genome.wustl.edu 37 19 51228632 51228632 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 51228632 51228632 G C SNP CLEC11A ENST00000250340 human ensembl 70_37 +1 known missense c.880 p.E294Q 1.000 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 - no_errors CLEC11A HGNC CLEC11A 6320 genome.wustl.edu 37 19 51228632 51228632 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 51228632 51228632 G C SNP CLEC11A ENST00000250340 human ensembl 70_37 +1 known missense c.880 p.E294Q 1.000 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 - no_errors CLEC11A HGNC COL6A3 1293 genome.wustl.edu 37 2 238287552 238287552 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 238287552 238287552 G A SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.2224 p.H742Y 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COL6A3 1293 genome.wustl.edu 37 2 238287552 238287552 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 238287552 238287552 G A SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.2224 p.H742Y 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COQ5 84274 genome.wustl.edu 37 12 120966892 120966892 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 120966892 120966892 G A SNP COQ5 ENST00000288532 human ensembl 70_37 -1 known missense c.53 p.S18L 0.005 NULL pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC COQ5 84274 genome.wustl.edu 37 12 120966892 120966892 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 120966892 120966892 G A SNP COQ5 ENST00000288532 human ensembl 70_37 -1 known missense c.53 p.S18L 0.005 NULL pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC CPA6 57094 genome.wustl.edu 37 8 68658352 68658352 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 68658352 68658352 C T SNP CPA6 ENST00000297770 human ensembl 70_37 -1 known missense c.13 p.G5R 0.815 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC CPA6 57094 genome.wustl.edu 37 8 68658352 68658352 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 68658352 68658352 C T SNP CPA6 ENST00000297770 human ensembl 70_37 -1 known missense c.13 p.G5R 0.815 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16945227 16945227 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 16945227 16945227 G T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP2 HGNC CXorf23 256643 genome.wustl.edu 37 X 19947987 19947987 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 19947987 19947987 C G SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1935 p.Q645H 1.000 NULL NULL - no_errors CXorf23 HGNC CXorf23 256643 genome.wustl.edu 37 X 19947987 19947987 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 19947987 19947987 C G SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1935 p.Q645H 1.000 NULL NULL - no_errors CXorf23 HGNC CYLC1 1538 genome.wustl.edu 37 X 83129330 83129330 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 83129330 83129330 C G SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known missense c.1614 p.I538M 0.005 NULL NULL - no_errors CYLC1 HGNC CYLC1 1538 genome.wustl.edu 37 X 83129330 83129330 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 83129330 83129330 C G SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known missense c.1614 p.I538M 0.005 NULL NULL - no_errors CYLC1 HGNC CYP2B7P1 1556 genome.wustl.edu 37 19 41445032 41445032 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 41445032 41445032 C G SNP CYP2B7P1 ENST00000593298 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2B7P1 HGNC CYP2B7P1 1556 genome.wustl.edu 37 19 41450687 41450687 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 41450687 41450687 C G SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2B7P1 HGNC CYP2B7P1 1556 genome.wustl.edu 37 19 41450687 41450687 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 41450687 41450687 C G SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2B7P1 HGNC DAPK1 1612 genome.wustl.edu 37 9 90220066 90220066 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 90220066 90220066 C T SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known missense c.260 p.T87M 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC DAPK1 1612 genome.wustl.edu 37 9 90220066 90220066 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 90220066 90220066 C T SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known missense c.260 p.T87M 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC DIAPH2-AS1 10824 genome.wustl.edu 37 X 96783880 96783880 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 96783880 96783880 T C SNP DIAPH2-AS1 ENST00000579945 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors DIAPH2-AS1 HGNC DNAH5 1767 genome.wustl.edu 37 5 13762864 13762864 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 5 13762864 13762864 G T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.10248 p.F3416L 0.996 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 DNAH5 1767 genome.wustl.edu 37 5 13762864 13762864 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 5 13762864 13762864 G T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.10248 p.F3416L 0.996 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 DNAJC10 54431 genome.wustl.edu 37 2 183581193 183581193 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 183581193 183581193 C T SNP DNAJC10 ENST00000469118 human ensembl 70_37 +1 known rna NULL NULL 0.202 - - - no_errors DNAJC10 HGNC DSE 29940 genome.wustl.edu 37 6 116757050 116757050 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 116757050 116757050 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1476 p.Y492 0.009 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC DSE 29940 genome.wustl.edu 37 6 116757050 116757050 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 116757050 116757050 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1476 p.Y492 0.009 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC DSPP 1834 genome.wustl.edu 37 4 88536937 88536937 + Silent SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88536937 88536937 T C SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3123 p.D1041 0.986 NULL NULL - no_errors DSPP HGNC EMR2 30817 genome.wustl.edu 37 19 14863254 14863254 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 14863254 14863254 G C SNP EMR2 ENST00000596991 human ensembl 70_37 -1 known missense c.1675 p.L559V 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,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_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000161103 0 genome.wustl.edu 37 22 18839300 18839300 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 18839300 18839300 T C SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 0 genome.wustl.edu 37 22 18844790 18844790 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 18844790 18844790 C T SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000207834 0 genome.wustl.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 23006961 23006961 C T SNP ENSG00000207834 ENST00000385099 human ensembl 70_37 +1 novel rna NULL NULL 0.759 - - - no_errors D86994.2 Clone_based_ensembl_gene ENSG00000223381 0 genome.wustl.edu 37 10 110598925 110598925 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 110598925 110598925 G C SNP ENSG00000223381 ENST00000421481 human ensembl 70_37 +1 known rna NULL NULL 0.060 - - - no_errors RP11-655H13.2 Clone_based_vega_gene ENSG00000224235 0 genome.wustl.edu 37 1 88371376 88371376 + RNA SNP T T A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 88371376 88371376 T A SNP ENSG00000224235 ENST00000437598 human ensembl 70_37 -1 known rna NULL NULL 0.978 - - - no_errors RP5-1027O11.1 Clone_based_vega_gene ENSG00000224675 0 genome.wustl.edu 37 2 155293087 155293087 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 155293087 155293087 C A SNP ENSG00000224675 ENST00000434635 human ensembl 70_37 -1 known rna NULL NULL 0.948 - - - no_errors AC009227.2 Clone_based_vega_gene ENSG00000224675 0 genome.wustl.edu 37 2 155293269 155293269 + RNA SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 155293269 155293269 A G SNP ENSG00000224675 ENST00000434635 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009227.2 Clone_based_vega_gene ENSG00000225484 0 genome.wustl.edu 37 10 81564275 81564275 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 81564275 81564275 C T SNP ENSG00000225484 ENST00000419697 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors RP11-773D16.1 Clone_based_vega_gene ENSG00000226684 0 genome.wustl.edu 37 6 97731265 97731266 + RNA INS - - A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 97731265 97731266 - A INS ENSG00000226684 ENST00000457513 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP3-418C23.2 Clone_based_vega_gene ENSG00000227486 0 genome.wustl.edu 37 X 55935175 55935175 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 55935175 55935175 G A SNP ENSG00000227486 ENST00000452532 human ensembl 70_37 +1 known rna NULL NULL 0.103 - - - no_errors RP13-188A5.1 Clone_based_vega_gene ENSG00000228809 0 genome.wustl.edu 37 20 16695511 16695511 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 16695511 16695511 G C SNP ENSG00000228809 ENST00000425939 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-705D16.3 Clone_based_vega_gene ENSG00000229970 0 genome.wustl.edu 37 7 8301939 8301939 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 7 8301939 8301939 C G SNP ENSG00000229970 ENST00000424460 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007128.1 Clone_based_vega_gene ENSG00000234083 0 genome.wustl.edu 37 21 29350361 29350361 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 29350361 29350361 C T SNP ENSG00000234083 ENST00000433344 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AJ006995.3 Clone_based_vega_gene ENSG00000235381 0 genome.wustl.edu 37 6 155577153 155577154 + RNA INS - - AG TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 155577153 155577154 - AG INS ENSG00000235381 ENST00000435295 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000236653 0 genome.wustl.edu 37 2 199239323 199239323 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 199239323 199239323 G T SNP ENSG00000236653 ENST00000443261 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005235.1 Clone_based_vega_gene ENSG00000238142 0 genome.wustl.edu 37 1 17215742 17215742 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 17215742 17215742 G A SNP ENSG00000238142 ENST00000422124 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors RP11-108M9.4 Clone_based_vega_gene ENSG00000239739 0 genome.wustl.edu 37 3 170458280 170458280 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 170458280 170458280 C A SNP ENSG00000239739 ENST00000473110 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-373E16.4 Clone_based_vega_gene ENSG00000244380 0 genome.wustl.edu 37 3 48482224 48482224 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 48482224 48482224 G C SNP ENSG00000244380 ENST00000435578 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-24C3.2 Clone_based_vega_gene ENSG00000246774 0 genome.wustl.edu 37 4 110236384 110236384 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 110236384 110236384 G A SNP ENSG00000246774 ENST00000500526 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors AC004051.2 Clone_based_vega_gene ENSG00000247416 0 genome.wustl.edu 37 11 112830504 112830504 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 112830504 112830504 G C SNP ENSG00000247416 ENST00000500537 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-629G13.1 Clone_based_vega_gene ENSG00000250007 0 genome.wustl.edu 37 15 35104824 35104824 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 15 35104824 35104824 G T SNP ENSG00000250007 ENST00000503496 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-814P5.1 Clone_based_vega_gene ENSG00000250387 0 genome.wustl.edu 37 5 70647744 70647744 + RNA SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 5 70647744 70647744 A C SNP ENSG00000250387 ENST00000502659 human ensembl 70_37 -1 putative rna NULL NULL 0.005 - - - no_errors RP11-136K7.2 Clone_based_vega_gene ENSG00000251897 0 genome.wustl.edu 37 18 6936936 6936936 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 18 6936936 6936936 T C SNP ENSG00000251897 ENST00000516088 human ensembl 70_37 -1 novel rna NULL NULL 0.239 - - - no_errors U6 RFAM ENSG00000253894 0 genome.wustl.edu 37 8 64381117 64381117 + RNA SNP A A T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 64381117 64381117 A T SNP ENSG00000253894 ENST00000518739 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-45K10.2 Clone_based_vega_gene ENSG00000253988 0 genome.wustl.edu 37 8 139085371 139085371 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 139085371 139085371 C A SNP ENSG00000253988 ENST00000521793 human ensembl 70_37 +1 known rna NULL NULL 0.170 - - - no_errors RP11-489O18.1 Clone_based_vega_gene ENSG00000254154 0 genome.wustl.edu 37 1 177929129 177929129 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 177929129 177929129 G A SNP ENSG00000254154 ENST00000466953 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000257769 0 genome.wustl.edu 37 16 15704411 15704411 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 15704411 15704411 G C SNP ENSG00000257769 ENST00000549756 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-193M12.1 Clone_based_vega_gene ENSG00000258935 0 genome.wustl.edu 37 14 91034045 91034045 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 91034045 91034045 C G SNP ENSG00000258935 ENST00000557622 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1078H9.2 Clone_based_vega_gene ENSG00000260248 0 genome.wustl.edu 37 17 71172065 71172065 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 71172065 71172065 G C SNP ENSG00000260248 ENST00000569655 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-143K11.1 Clone_based_vega_gene ENSG00000261167 0 genome.wustl.edu 37 3 131175355 131175355 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 131175355 131175355 C T SNP ENSG00000261167 ENST00000565095 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-517B11.7 Clone_based_vega_gene ENSG00000261226 0 genome.wustl.edu 37 16 89003293 89003293 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 89003293 89003293 C T SNP ENSG00000261226 ENST00000561980 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-830F9.7 Clone_based_vega_gene ENSG00000261658 0 genome.wustl.edu 37 8 70580973 70580973 + RNA SNP T T G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 70580973 70580973 T G SNP ENSG00000261658 ENST00000562490 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-102F4.3 Clone_based_vega_gene ENSG00000264467 0 genome.wustl.edu 37 X 122844839 122844839 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 122844839 122844839 C A SNP ENSG00000264467 ENST00000584278 human ensembl 70_37 +1 novel rna NULL NULL 0.036 - - - no_errors Metazoa_SRP RFAM ENSG00000267133 0 genome.wustl.edu 37 19 32597418 32597418 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 32597418 32597418 G C SNP ENSG00000267133 ENST00000591232 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC011518.2 Clone_based_vega_gene ENSG00000268613 0 genome.wustl.edu 37 19 53638206 53638206 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 53638206 53638206 G C SNP ENSG00000268613 ENST00000596766 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors CTD-2620I22.7 Clone_based_vega_gene ERI1 90459 genome.wustl.edu 37 8 8973882 8973882 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 8973882 8973882 G A SNP ERI1 ENST00000518663 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ERI1 HGNC F2RL3 9002 genome.wustl.edu 37 19 17001291 17001291 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 17001291 17001291 C G SNP F2RL3 ENST00000248076 human ensembl 70_37 +1 known missense c.1017 p.I339M 0.998 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_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL3 HGNC F2RL3 9002 genome.wustl.edu 37 19 17001291 17001291 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 17001291 17001291 C G SNP F2RL3 ENST00000248076 human ensembl 70_37 +1 known missense c.1017 p.I339M 0.998 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_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL3 HGNC SUPT20H 55578 genome.wustl.edu 37 13 37614596 37614596 + Splice_Site SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 37614596 37614596 C A SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known splice_site c.514-1 e8-1 1.000 - - - no_errors FAM48A HGNC SUPT20H 55578 genome.wustl.edu 37 13 37614596 37614596 + Splice_Site SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 37614596 37614596 C A SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known splice_site c.514-1 e8-1 1.000 - - - no_errors FAM48A HGNC FBXO3 26273 genome.wustl.edu 37 11 33795773 33795773 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 33795773 33795773 C T SNP FBXO3 ENST00000533103 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXO3 HGNC FLJ45139 0 genome.wustl.edu 37 21 40251736 40251736 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 40251736 40251736 T C SNP FLJ45139 ENST00000380931 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AF064858.6 Clone_based_vega_gene GALK1 2584 genome.wustl.edu 37 17 73754155 73754155 + Silent SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 73754155 73754155 G T SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known silent c.1251 p.A417 0.998 pirsf_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 GID8 54994 genome.wustl.edu 37 20 61574475 61574475 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 61574475 61574475 G C SNP GID8 ENST00000266069 human ensembl 70_37 +1 known missense c.255 p.L85F 0.974 smart_CTLH_C,pfscan_CTLH_C pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC GID8 54994 genome.wustl.edu 37 20 61574475 61574475 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 61574475 61574475 G C SNP GID8 ENST00000266069 human ensembl 70_37 +1 known missense c.255 p.L85F 0.974 smart_CTLH_C,pfscan_CTLH_C pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC GPHN 10243 genome.wustl.edu 37 14 66976012 66976012 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 66976012 66976012 C G SNP GPHN ENST00000556020 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors GPHN HGNC GRIK1 2897 genome.wustl.edu 37 21 30953833 30953833 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 30953833 30953833 G T SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.1830 p.H610Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC GRIK1 2897 genome.wustl.edu 37 21 30953833 30953833 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 30953833 30953833 G T SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.1830 p.H610Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC HIST1H2AI 8329 genome.wustl.edu 37 6 27776279 27776279 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 27776279 27776279 C A SNP HIST1H2AI ENST00000358739 human ensembl 70_37 +1 known missense c.292 p.L98M 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC HIST1H2AI 8329 genome.wustl.edu 37 6 27776279 27776279 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 27776279 27776279 C A SNP HIST1H2AI ENST00000358739 human ensembl 70_37 +1 known missense c.292 p.L98M 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC HIST1H4E 8367 genome.wustl.edu 37 6 26205164 26205164 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 26205164 26205164 C G SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.292 p.L98V 1.000 superfamily_Histone-fold,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 HIST1H4E HGNC HIST1H4E 8367 genome.wustl.edu 37 6 26205164 26205164 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 26205164 26205164 C G SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.292 p.L98V 1.000 superfamily_Histone-fold,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 HIST1H4E HGNC HLA-DQA1 3117 genome.wustl.edu 37 6 32606730 32606731 + Frame_Shift_Ins INS - - G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 32606730 32606731 - G INS HLA-DQA1 ENST00000482745 human ensembl 70_37 +1 known frame_shift_ins c.124_125 p.V43fs 0.000:0.000 NULL NULL - no_errors HLA-DQA1 HGNC HNRNPA1 3178 genome.wustl.edu 37 12 54680837 54680838 + RNA INS - - G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 54680837 54680838 - G INS HNRNPA1 ENST00000551803 human ensembl 70_37 +1 known rna NULL NULL 0.991:0.309 - - - no_errors HNRNPA1 HGNC INPP5F 22876 genome.wustl.edu 37 10 121586539 121586539 + Silent SNP A A T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 121586539 121586539 A T SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known silent c.2646 p.V882 0.241 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC INPP5F 22876 genome.wustl.edu 37 10 121586539 121586539 + Silent SNP A A T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 121586539 121586539 A T SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known silent c.2646 p.V882 0.241 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC INTS6-AS1 100507398 genome.wustl.edu 37 13 52042358 52042358 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 52042358 52042358 C T SNP INTS6-AS1 ENST00000601572 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors INTS6-AS1 HGNC IVL 3713 genome.wustl.edu 37 1 152883056 152883056 + Silent SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 152883056 152883056 A G SNP IVL ENST00000368764 human ensembl 70_37 +1 known silent c.783 p.G261 0.006 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC KANSL1 284058 genome.wustl.edu 37 17 44115926 44115926 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 44115926 44115926 G T SNP KANSL1 ENST00000262419 human ensembl 70_37 -1 known nonsense c.2519 p.S840* 0.989 NULL NULL - no_errors KANSL1 HGNC KANSL1 284058 genome.wustl.edu 37 17 44115926 44115926 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 44115926 44115926 G T SNP KANSL1 ENST00000262419 human ensembl 70_37 -1 known nonsense c.2519 p.S840* 0.989 NULL NULL - no_errors KANSL1 HGNC KCTD18 130535 genome.wustl.edu 37 2 201371660 201371660 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 201371660 201371660 C T SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.80 p.R27Q 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC KCTD18 130535 genome.wustl.edu 37 2 201371660 201371660 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 201371660 201371660 C T SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.80 p.R27Q 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC KIAA0430 9665 genome.wustl.edu 37 16 15704957 15704957 + Nonsense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 15704957 15704957 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known nonsense c.3626 p.S1209* 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KIAA0430 9665 genome.wustl.edu 37 16 15704957 15704957 + Nonsense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 15704957 15704957 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known nonsense c.3626 p.S1209* 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KLHDC7A 127707 genome.wustl.edu 37 1 18809383 18809383 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 18809383 18809383 C G SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1908 p.I636M 0.998 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC KLHDC7A 127707 genome.wustl.edu 37 1 18809383 18809383 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 18809383 18809383 C G SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1908 p.I636M 0.998 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC LCMT1 51451 genome.wustl.edu 37 16 25186283 25186283 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 25186283 25186283 G A SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC LCMT1 51451 genome.wustl.edu 37 16 25186283 25186283 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 25186283 25186283 G A SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC LINC00417 100874164 genome.wustl.edu 37 13 19317426 19317426 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 19317426 19317426 C T SNP LINC00417 ENST00000453176 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors LINC00417 HGNC LINC00489 100861522 genome.wustl.edu 37 20 36251310 36251310 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 36251310 36251310 G T SNP LINC00489 ENST00000457816 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00489 HGNC LINC00665 100506930 genome.wustl.edu 37 19 36803992 36803992 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 36803992 36803992 G C SNP LINC00665 ENST00000449434 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors LINC00665 HGNC LIPT2 387787 genome.wustl.edu 37 11 74204305 74204305 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 74204305 74204305 G C SNP LIPT2 ENST00000310109 human ensembl 70_37 -1 known missense c.444 p.D148E 0.711 pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase - no_errors LIPT2 HGNC LOC100505498 100505498 genome.wustl.edu 37 2 145832928 145832928 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 145832928 145832928 C T SNP LOC100505498 ENST00000445791 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC074093.1 Clone_based_vega_gene LOC100505776 100505776 genome.wustl.edu 37 18 69195091 69195092 + RNA INS - - T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 18 69195091 69195092 - T INS LOC100505776 ENST00000568095 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors RP11-510D19.1 Clone_based_vega_gene LOC150776 150776 genome.wustl.edu 37 2 132266119 132266119 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 132266119 132266119 G A SNP LOC150776 ENST00000438378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene LOC150776 150776 genome.wustl.edu 37 2 132266119 132266119 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 132266119 132266119 G A SNP LOC150776 ENST00000438378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene LOC400756 400756 genome.wustl.edu 37 1 63175371 63175371 + RNA SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 63175371 63175371 A C SNP LOC400756 ENST00000453229 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-230B22.1 Clone_based_vega_gene LOC642633 642633 genome.wustl.edu 37 22 21535771 21535771 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 21535771 21535771 C T SNP LOC642633 ENST00000424410 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors KB-1183D5.11 Clone_based_vega_gene LOC727982 727982 genome.wustl.edu 37 2 4676488 4676488 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 4676488 4676488 C T SNP LOC727982 ENST00000412134 human ensembl 70_37 -1 known rna NULL NULL 0.170 - - - no_errors AC022311.1 Clone_based_vega_gene MAGEC2 51438 genome.wustl.edu 37 X 141291726 141291726 + Silent SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 141291726 141291726 G C SNP MAGEC2 ENST00000247452 human ensembl 70_37 -1 known silent c.48 p.S16 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC MAGEC2 51438 genome.wustl.edu 37 X 141291726 141291726 + Silent SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 141291726 141291726 G C SNP MAGEC2 ENST00000247452 human ensembl 70_37 -1 known silent c.48 p.S16 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649151 75649151 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 75649151 75649151 C A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.828 p.A276 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649151 75649151 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 75649151 75649151 C A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.828 p.A276 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MEX3D 399664 genome.wustl.edu 37 19 1555705 1555705 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 1555705 1555705 C T SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known missense c.1813 p.E605K 0.995 pfscan_Znf_RING pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC MGA 23269 genome.wustl.edu 37 15 41988737 41988737 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 15 41988737 41988737 C T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1529 p.T510I 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 MGA 23269 genome.wustl.edu 37 15 41988737 41988737 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 15 41988737 41988737 C T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1529 p.T510I 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 MOV10L1 54456 genome.wustl.edu 37 22 50582543 50582543 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 50582543 50582543 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.2376 p.P792 0.162 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MOV10L1 54456 genome.wustl.edu 37 22 50582543 50582543 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 50582543 50582543 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.2376 p.P792 0.162 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13445 13445 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 MT 13445 13445 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1109 p.S370L NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUC12 10071 genome.wustl.edu 37 7 100644059 100644059 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 7 100644059 100644059 G C SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.10644 p.E3548D 0.134 NULL pfam_SEA - no_errors MUC12 HGNC MUM1L1 139221 genome.wustl.edu 37 X 105451166 105451166 + Silent SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 105451166 105451166 A C SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known silent c.1741 p.R581 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC MUM1L1 139221 genome.wustl.edu 37 X 105451166 105451166 + Silent SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 105451166 105451166 A C SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known silent c.1741 p.R581 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC MYH8 4626 genome.wustl.edu 37 17 10304986 10304986 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 10304986 10304986 G C SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.2805 p.I935M 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC MYH8 4626 genome.wustl.edu 37 17 10304986 10304986 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 10304986 10304986 G C SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.2805 p.I935M 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC MYNN 55892 genome.wustl.edu 37 3 169496994 169496994 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 169496994 169496994 C A SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.705 p.L235 0.626 NULL pfam_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 MYNN HGNC MYNN 55892 genome.wustl.edu 37 3 169496994 169496994 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 169496994 169496994 C A SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.705 p.L235 0.626 NULL pfam_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 MYNN HGNC MYT1L 23040 genome.wustl.edu 37 2 1805482 1805482 + Nonsense_Mutation SNP T T A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 1805482 1805482 T A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known nonsense c.3262 p.K1088* 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC MYT1L 23040 genome.wustl.edu 37 2 1805482 1805482 + Nonsense_Mutation SNP T T A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 1805482 1805482 T A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known nonsense c.3262 p.K1088* 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC NEU2 4759 genome.wustl.edu 37 2 233899464 233899464 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 233899464 233899464 C T SNP NEU2 ENST00000233840 human ensembl 70_37 +1 known silent c.840 p.P280 0.825 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU2 HGNC NEU2 4759 genome.wustl.edu 37 2 233899464 233899464 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 233899464 233899464 C T SNP NEU2 ENST00000233840 human ensembl 70_37 +1 known silent c.840 p.P280 0.825 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU2 HGNC NPPA 4878 genome.wustl.edu 37 1 11907423 11907423 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 11907423 11907423 G A SNP NPPA ENST00000376480 human ensembl 70_37 -1 known missense c.197 p.P66L 0.999 prints_Natriuretic_peptide_atrial pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC NPPA 4878 genome.wustl.edu 37 1 11907423 11907423 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 11907423 11907423 G A SNP NPPA ENST00000376480 human ensembl 70_37 -1 known missense c.197 p.P66L 0.999 prints_Natriuretic_peptide_atrial pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC OLFML2A 169611 genome.wustl.edu 37 9 127570102 127570102 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 127570102 127570102 C T SNP OLFML2A ENST00000373580 human ensembl 70_37 +1 known missense c.1211 p.P404L 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC OLFML2A 169611 genome.wustl.edu 37 9 127570102 127570102 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 127570102 127570102 C T SNP OLFML2A ENST00000373580 human ensembl 70_37 +1 known missense c.1211 p.P404L 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC PAF1 54623 genome.wustl.edu 37 19 39877206 39877206 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 39877206 39877206 G A SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.1099 p.R367W 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC PAF1 54623 genome.wustl.edu 37 19 39877206 39877206 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 39877206 39877206 G A SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.1099 p.R367W 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC PDS5A 23244 genome.wustl.edu 37 4 39868518 39868518 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 39868518 39868518 C A SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.2605 p.V869F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC POLQ 10721 genome.wustl.edu 37 3 121186375 121186375 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 121186375 121186375 G T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.6958 p.P2320T 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom 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 POLQ 10721 genome.wustl.edu 37 3 121186375 121186375 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 121186375 121186375 G T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.6958 p.P2320T 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom 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 POU2F3 25833 genome.wustl.edu 37 11 120186099 120186099 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 120186099 120186099 C G SNP POU2F3 ENST00000543440 human ensembl 70_37 +1 known silent c.1104 p.L368 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC POU2F3 25833 genome.wustl.edu 37 11 120186099 120186099 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 120186099 120186099 C G SNP POU2F3 ENST00000543440 human ensembl 70_37 +1 known silent c.1104 p.L368 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC PRDM16 63976 genome.wustl.edu 37 1 3319365 3319365 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 3319365 3319365 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.687 p.T229 0.237 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PRDM16 63976 genome.wustl.edu 37 1 3319365 3319365 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 3319365 3319365 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.687 p.T229 0.237 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PRG4 10216 genome.wustl.edu 37 1 186275501 186275501 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 186275501 186275501 C A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.650 p.P217Q 0.808 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRG4 10216 genome.wustl.edu 37 1 186275501 186275501 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 186275501 186275501 C A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.650 p.P217Q 0.808 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PTH1R 5745 genome.wustl.edu 37 3 46944832 46944832 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 46944832 46944832 G A SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.1468 p.G490R 1.000 prints_GPCR_2_parathyroid_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_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC PTH1R 5745 genome.wustl.edu 37 3 46944832 46944832 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 46944832 46944832 G A SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.1468 p.G490R 1.000 prints_GPCR_2_parathyroid_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_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC PTRH1 138428 genome.wustl.edu 37 9 130476435 130476435 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 130476435 130476435 C T SNP PTRH1 ENST00000419060 human ensembl 70_37 -1 known missense c.589 p.D197N 0.997 pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro - no_errors PTRH1 HGNC PVT1 5820 genome.wustl.edu 37 8 129082589 129082589 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 129082589 129082589 G C SNP PVT1 ENST00000522875 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PVT1 HGNC RAI1 10743 genome.wustl.edu 37 17 17713347 17713347 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 17713347 17713347 C T SNP RAI1 ENST00000582514 human ensembl 70_37 +1 putative rna NULL NULL 0.916 - - - no_errors RAI1 HGNC REPS1 85021 genome.wustl.edu 37 6 139241454 139241454 + Splice_Site SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 139241454 139241454 C G SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known splice_site c.1427-1 e12-1 1.000 - - - no_errors REPS1 HGNC REPS1 85021 genome.wustl.edu 37 6 139241454 139241454 + Splice_Site SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 139241454 139241454 C G SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known splice_site c.1427-1 e12-1 1.000 - - - no_errors REPS1 HGNC REXO4 57109 genome.wustl.edu 37 9 136277936 136277936 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 136277936 136277936 G A SNP REXO4 ENST00000371942 human ensembl 70_37 -1 known silent c.678 p.S226 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC REXO4 57109 genome.wustl.edu 37 9 136277936 136277936 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 136277936 136277936 G A SNP REXO4 ENST00000371942 human ensembl 70_37 -1 known silent c.678 p.S226 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC RGR 5995 genome.wustl.edu 37 10 86018409 86018409 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 86018409 86018409 G C SNP RGR ENST00000479725 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RGR HGNC RGR 5995 genome.wustl.edu 37 10 86018409 86018409 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 86018409 86018409 G C SNP RGR ENST00000479725 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RGR HGNC RIMS2 9699 genome.wustl.edu 37 8 104973324 104973324 + Silent SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 104973324 104973324 T C SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known silent c.2733 p.S911 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 RIMS2 9699 genome.wustl.edu 37 8 104973324 104973324 + Silent SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 104973324 104973324 T C SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known silent c.2733 p.S911 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 RXRA 6256 genome.wustl.edu 37 9 137330790 137330790 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 137330790 137330790 G A SNP RXRA ENST00000356384 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RXRA HGNC RYR1 6261 genome.wustl.edu 37 19 38976785 38976785 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 38976785 38976785 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.5490 p.V1830 0.857 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 RYR1 6261 genome.wustl.edu 37 19 38976785 38976785 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 38976785 38976785 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.5490 p.V1830 0.857 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 SEMA4F 10505 genome.wustl.edu 37 2 74902126 74902126 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 74902126 74902126 C T SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known silent c.1113 p.V371 0.981 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC SEMA4F 10505 genome.wustl.edu 37 2 74902126 74902126 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 74902126 74902126 C T SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known silent c.1113 p.V371 0.981 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC SETD2 29072 genome.wustl.edu 37 3 47162506 47162506 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 47162506 47162506 G C SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.3620 p.S1207C 0.850 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC SETD2 29072 genome.wustl.edu 37 3 47162506 47162506 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 47162506 47162506 G C SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.3620 p.S1207C 0.850 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC SLC26A1 10861 genome.wustl.edu 37 4 983041 983041 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 983041 983041 C A SNP SLC26A1 ENST00000361661 human ensembl 70_37 -1 known silent c.1686 p.T562 0.007 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 SLC26A1 HGNC SLC26A10 65012 genome.wustl.edu 37 12 58019065 58019065 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 58019065 58019065 C T SNP SLC26A10 ENST00000320442 human ensembl 70_37 +1 known silent c.1425 p.T475 0.806 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC SLC26A10 65012 genome.wustl.edu 37 12 58019065 58019065 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 58019065 58019065 C T SNP SLC26A10 ENST00000320442 human ensembl 70_37 +1 known silent c.1425 p.T475 0.806 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC SPAG11B 10407 genome.wustl.edu 37 8 7308358 7308358 + Silent SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 7308358 7308358 A G SNP SPAG11B ENST00000398462 human ensembl 70_37 -1 known silent c.279 p.F93 0.994 pfam_Defensin_beta-typ pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC SPAG11B 10407 genome.wustl.edu 37 8 7308358 7308358 + Silent SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 7308358 7308358 A G SNP SPAG11B ENST00000398462 human ensembl 70_37 -1 known silent c.279 p.F93 0.994 pfam_Defensin_beta-typ pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC SPARCL1 8404 genome.wustl.edu 37 4 88415045 88415045 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415045 88415045 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.907 p.E303K 0.133 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SPARCL1 8404 genome.wustl.edu 37 4 88415045 88415045 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415045 88415045 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.907 p.E303K 0.133 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SPARCL1 8404 genome.wustl.edu 37 4 88415720 88415720 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415720 88415720 C G SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.232 p.E78Q 0.974 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SPARCL1 8404 genome.wustl.edu 37 4 88415720 88415720 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415720 88415720 C G SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.232 p.E78Q 0.974 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SSR3 6747 genome.wustl.edu 37 3 156271474 156271474 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 156271474 156271474 T C SNP SSR3 ENST00000265044 human ensembl 70_37 -1 known missense c.230 p.Y77C 1.000 pfam_TRAP-gamma pfam_TRAP-gamma - no_errors SSR3 HGNC SSR3 6747 genome.wustl.edu 37 3 156271474 156271474 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 156271474 156271474 T C SNP SSR3 ENST00000265044 human ensembl 70_37 -1 known missense c.230 p.Y77C 1.000 pfam_TRAP-gamma pfam_TRAP-gamma - no_errors SSR3 HGNC STK39 27347 genome.wustl.edu 37 2 168811667 168811667 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 168811667 168811667 G A SNP STK39 ENST00000487143 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors STK39 HGNC TBC1D5 9779 genome.wustl.edu 37 3 17279867 17279867 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 17279867 17279867 T C SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.1376 p.N459S 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC TBC1D5 9779 genome.wustl.edu 37 3 17279867 17279867 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 17279867 17279867 T C SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.1376 p.N459S 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC NELFCD 51497 genome.wustl.edu 37 20 57564055 57564055 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 57564055 57564055 G C SNP TH1L ENST00000344018 human ensembl 70_37 +1 known missense c.510 p.L170F 1.000 pfam_TH1 pfam_TH1 - no_errors TH1L HGNC TIE1 7075 genome.wustl.edu 37 1 43780910 43780910 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 43780910 43780910 C T SNP TIE1 ENST00000461061 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors TIE1 HGNC TMEM132C 92293 genome.wustl.edu 37 12 128899777 128899777 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 128899777 128899777 G T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.586 p.A196S 1.000 NULL NULL - no_errors TMEM132C HGNC TNIK 23043 genome.wustl.edu 37 3 170819317 170819317 + Missense_Mutation SNP T T G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 170819317 170819317 T G SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.2512 p.S838R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TNIK 23043 genome.wustl.edu 37 3 170819317 170819317 + Missense_Mutation SNP T T G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 170819317 170819317 T G SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.2512 p.S838R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TRAF4 9618 genome.wustl.edu 37 17 27075426 27075426 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 27075426 27075426 C G SNP TRAF4 ENST00000262395 human ensembl 70_37 +1 known silent c.609 p.V203 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 TRAF4 9618 genome.wustl.edu 37 17 27075426 27075426 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 27075426 27075426 C G SNP TRAF4 ENST00000262395 human ensembl 70_37 +1 known silent c.609 p.V203 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 TSSC1 7260 genome.wustl.edu 37 2 3323593 3323593 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 3323593 3323593 C T SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors TSSC1 HGNC TSSC1 7260 genome.wustl.edu 37 2 3323594 3323594 + RNA SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 3323594 3323594 A G SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors TSSC1 HGNC TUBA3C 7278 genome.wustl.edu 37 13 19751573 19751573 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 19751573 19751573 G T SNP TUBA3C ENST00000400113 human ensembl 70_37 -1 known missense c.550 p.P184T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_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_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC TUBA3C 7278 genome.wustl.edu 37 13 19751573 19751573 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 19751573 19751573 G T SNP TUBA3C ENST00000400113 human ensembl 70_37 -1 known missense c.550 p.P184T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_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_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC TYW1 55253 genome.wustl.edu 37 7 66460413 66460413 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 7 66460413 66460413 T C SNP TYW1 ENST00000491969 human ensembl 70_37 +1 known rna NULL NULL 0.904 - - - no_errors TYW1 HGNC UBAP2L 9898 genome.wustl.edu 37 1 154241746 154241746 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 154241746 154241746 C G SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 0.833 - - - no_errors UBAP2L HGNC UBAP2L 9898 genome.wustl.edu 37 1 154241823 154241823 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 154241823 154241823 C A SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBAP2L HGNC UBAP2L 9898 genome.wustl.edu 37 1 154241829 154241829 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 154241829 154241829 C T SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBAP2L HGNC ULK4 54986 genome.wustl.edu 37 3 41291022 41291022 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 41291022 41291022 C T SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.3722 p.G1241D 0.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC UNK 85451 genome.wustl.edu 37 17 73819469 73819469 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 73819469 73819469 G A SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2371 p.E791K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC UNK 85451 genome.wustl.edu 37 17 73819469 73819469 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 73819469 73819469 G A SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2371 p.E791K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC USP26 83844 genome.wustl.edu 37 X 132161143 132161143 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 132161143 132161143 G T SNP USP26 ENST00000370832 human ensembl 70_37 -1 known nonsense c.1106 p.S369* 0.047 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC USP26 83844 genome.wustl.edu 37 X 132161143 132161143 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 132161143 132161143 G T SNP USP26 ENST00000370832 human ensembl 70_37 -1 known nonsense c.1106 p.S369* 0.047 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC UXT 8409 genome.wustl.edu 37 X 47518369 47518369 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 47518369 47518369 C T SNP UXT ENST00000485641 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors UXT HGNC UXT 8409 genome.wustl.edu 37 X 47518369 47518369 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 47518369 47518369 C T SNP UXT ENST00000485641 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors UXT HGNC VMP1 81671 genome.wustl.edu 37 17 57915144 57915144 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 57915144 57915144 G A SNP VMP1 ENST00000591782 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VMP1 HGNC WDR31 114987 genome.wustl.edu 37 9 116098697 116098697 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 116098697 116098697 C G SNP WDR31 ENST00000461942 human ensembl 70_37 -1 known rna NULL NULL 0.975 - - - no_errors WDR31 HGNC ZBTB7C 201501 genome.wustl.edu 37 18 45555962 45555962 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 18 45555962 45555962 G A SNP ZBTB7C ENST00000332053 human ensembl 70_37 -1 known missense c.1529 p.A510V 0.340 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 ZBTB7C HGNC ZC2HC1A 51101 genome.wustl.edu 37 8 79598747 79598747 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 79598747 79598747 G A SNP ZC2HC1A ENST00000263849 human ensembl 70_37 +1 known missense c.256 p.E86K 1.000 NULL NULL - no_errors ZC2HC1A HGNC ZC2HC1A 51101 genome.wustl.edu 37 8 79598747 79598747 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 79598747 79598747 G A SNP ZC2HC1A ENST00000263849 human ensembl 70_37 +1 known missense c.256 p.E86K 1.000 NULL NULL - no_errors ZC2HC1A HGNC ZDBF2 57683 genome.wustl.edu 37 2 207173954 207173954 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 207173954 207173954 A C SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4702 p.I1568L 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207173954 207173954 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 207173954 207173954 A C SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4702 p.I1568L 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZNF470 388566 genome.wustl.edu 37 19 57088530 57088530 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 57088530 57088530 C T SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.733 p.L245F 0.017 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 ZNF470 HGNC ZNF470 388566 genome.wustl.edu 37 19 57088530 57088530 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 57088530 57088530 C T SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.733 p.L245F 0.017 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 ZNF470 HGNC ZNF566 84924 genome.wustl.edu 37 19 36940268 36940268 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 36940268 36940268 T C SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.871 p.K291E 1.000 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 ZNF566 HGNC ZNF566 84924 genome.wustl.edu 37 19 36940268 36940268 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 36940268 36940268 T C SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.871 p.K291E 1.000 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 ZNF566 HGNC ZNF569 148266 genome.wustl.edu 37 19 37903935 37903935 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 37903935 37903935 C G SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.1625 p.R542T 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 ZNF569 HGNC ZNF569 148266 genome.wustl.edu 37 19 37903935 37903935 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 37903935 37903935 C G SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.1625 p.R542T 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 ZNF569 HGNC ZSCAN18 65982 genome.wustl.edu 37 19 58596432 58596432 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 58596432 58596432 C T SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known missense c.1321 p.V441I 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ZSCAN18 65982 genome.wustl.edu 37 19 58596432 58596432 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 58596432 58596432 C T SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known missense c.1321 p.V441I 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC