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 ABCB10 23456 genome.wustl.edu 37 1 229667459 229667459 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 229667459 229667459 C T SNP ABCB10 ENST00000344517 human ensembl 70_37 -1 known silent c.1359 p.S453 0.021 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ABCB10 23456 genome.wustl.edu 37 1 229667459 229667459 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 229667459 229667459 C T SNP ABCB10 ENST00000344517 human ensembl 70_37 -1 known silent c.1359 p.S453 0.021 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC AKAP4 8852 genome.wustl.edu 37 X 49955455 49955455 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 49955455 49955455 G A SNP AKAP4 ENST00000481402 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors AKAP4 HGNC AKAP4 8852 genome.wustl.edu 37 X 49955455 49955455 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 49955455 49955455 G A SNP AKAP4 ENST00000481402 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors AKAP4 HGNC AMY2B 280 genome.wustl.edu 37 1 104122043 104122043 + Missense_Mutation SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 104122043 104122043 A T SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.1457 p.D486V 0.000 pfam_A-amylase_b_C,smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC AMY2B 280 genome.wustl.edu 37 1 104122043 104122043 + Missense_Mutation SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 104122043 104122043 A T SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.1457 p.D486V 0.000 pfam_A-amylase_b_C,smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ANKRD20A4 728747 genome.wustl.edu 37 9 69420382 69420382 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 9 69420382 69420382 G A SNP ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known silent c.1272 p.T424 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ANKRD49 54851 genome.wustl.edu 37 11 94230225 94230225 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 94230225 94230225 G A SNP ANKRD49 ENST00000534911 human ensembl 70_37 +1 known silent c.366 p.V122 0.001 NULL NULL - no_errors ANKRD49 HGNC ANKRD49 54851 genome.wustl.edu 37 11 94230225 94230225 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 94230225 94230225 G A SNP ANKRD49 ENST00000534911 human ensembl 70_37 +1 known silent c.366 p.V122 0.001 NULL NULL - no_errors ANKRD49 HGNC APAF1 317 genome.wustl.edu 37 12 99042620 99042620 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 99042620 99042620 C T SNP APAF1 ENST00000547743 human ensembl 70_37 +1 putative missense c.355 p.L119F 0.000 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors APAF1 HGNC APAF1 317 genome.wustl.edu 37 12 99042620 99042620 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 99042620 99042620 C T SNP APAF1 ENST00000547743 human ensembl 70_37 +1 putative missense c.355 p.L119F 0.000 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors APAF1 HGNC ARHGAP18 93663 genome.wustl.edu 37 6 129920086 129920087 + RNA INS - - GTGT TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 129920086 129920087 - GTGT INS ARHGAP18 ENST00000463225 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors ARHGAP18 HGNC ATP10A 57194 genome.wustl.edu 37 15 25972339 25972339 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 25972339 25972339 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.815 p.T272M 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ATP10A 57194 genome.wustl.edu 37 15 25972339 25972339 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 25972339 25972339 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.815 p.T272M 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC AXIN2 8313 genome.wustl.edu 37 17 63554353 63554353 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 63554353 63554353 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known missense c.386 p.R129Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC AXIN2 8313 genome.wustl.edu 37 17 63554353 63554353 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 63554353 63554353 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known missense c.386 p.R129Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC AZI2 64343 genome.wustl.edu 37 3 28364161 28364161 + RNA SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 28364161 28364161 T A SNP AZI2 ENST00000295748 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors AZI2 HGNC BBOX1 8424 genome.wustl.edu 37 11 27136998 27136998 + Splice_Site SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27136998 27136998 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known splice_site c.534-1 e4-1 1.000 - - - no_errors BBOX1 HGNC BBOX1 8424 genome.wustl.edu 37 11 27136998 27136998 + Splice_Site SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27136998 27136998 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known splice_site c.534-1 e4-1 1.000 - - - no_errors BBOX1 HGNC BBOX1 8424 genome.wustl.edu 37 11 27137027 27137027 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137027 27137027 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.562 p.D188H 0.920 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC BBOX1 8424 genome.wustl.edu 37 11 27137027 27137027 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137027 27137027 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.562 p.D188H 0.920 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC BBOX1 8424 genome.wustl.edu 37 11 27137075 27137075 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137075 27137075 G A SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.610 p.D204N 1.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC BBOX1 8424 genome.wustl.edu 37 11 27137075 27137075 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137075 27137075 G A SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.610 p.D204N 1.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC BBOX1 8424 genome.wustl.edu 37 11 27147341 27147341 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27147341 27147341 C G SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.977 p.S326C 0.575 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC BFAR 51283 genome.wustl.edu 37 16 14749014 14749014 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 14749014 14749014 G C SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC BFAR 51283 genome.wustl.edu 37 16 14749014 14749014 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 14749014 14749014 G C SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC BPTF 2186 genome.wustl.edu 37 17 65914901 65914901 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 65914901 65914901 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5753 p.R1918K 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC BPTF 2186 genome.wustl.edu 37 17 65914901 65914901 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 65914901 65914901 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5753 p.R1918K 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC C14orf166B 145497 genome.wustl.edu 37 14 77319573 77319573 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 77319573 77319573 G A SNP C14orf166B ENST00000393774 human ensembl 70_37 +1 known silent c.828 p.L276 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC C14orf166B 145497 genome.wustl.edu 37 14 77319573 77319573 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 77319573 77319573 G A SNP C14orf166B ENST00000393774 human ensembl 70_37 +1 known silent c.828 p.L276 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC C18orf54 162681 genome.wustl.edu 37 18 51892104 51892104 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 51892104 51892104 C T SNP C18orf54 ENST00000300091 human ensembl 70_37 +1 known silent c.756 p.P252 0.996 NULL NULL - no_errors C18orf54 HGNC C18orf54 162681 genome.wustl.edu 37 18 51892104 51892104 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 51892104 51892104 C T SNP C18orf54 ENST00000300091 human ensembl 70_37 +1 known silent c.756 p.P252 0.996 NULL NULL - no_errors C18orf54 HGNC C1orf94 84970 genome.wustl.edu 37 1 34662959 34662959 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 34662959 34662959 G A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.454 p.E152K 0.000 NULL NULL - no_errors C1orf94 HGNC C1orf94 84970 genome.wustl.edu 37 1 34662959 34662959 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 34662959 34662959 G A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.454 p.E152K 0.000 NULL NULL - no_errors C1orf94 HGNC CECR2 27443 genome.wustl.edu 37 22 18022027 18022027 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 18022027 18022027 G T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2129 p.G710V 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CECR2 27443 genome.wustl.edu 37 22 18022027 18022027 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 18022027 18022027 G T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2129 p.G710V 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CEP95 90799 genome.wustl.edu 37 17 62529078 62529078 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 62529078 62529078 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known silent c.1794 p.K598 0.004 NULL superfamily_CH-domain - no_errors CEP95 HGNC CEP95 90799 genome.wustl.edu 37 17 62529078 62529078 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 62529078 62529078 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known silent c.1794 p.K598 0.004 NULL superfamily_CH-domain - no_errors CEP95 HGNC CHD8 57680 genome.wustl.edu 37 14 21884050 21884050 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 21884050 21884050 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.1733 p.R578H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC CHD8 57680 genome.wustl.edu 37 14 21884050 21884050 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 21884050 21884050 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.1733 p.R578H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC CMSS1 84319 genome.wustl.edu 37 3 99897391 99897391 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 99897391 99897391 G A SNP CMSS1 ENST00000494412 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CMSS1 HGNC CNNM2 54805 genome.wustl.edu 37 10 104679252 104679252 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 104679252 104679252 G A SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known missense c.1015 p.G339S 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC CNNM2 54805 genome.wustl.edu 37 10 104679252 104679252 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 104679252 104679252 G A SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known missense c.1015 p.G339S 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC COG3 83548 genome.wustl.edu 37 13 46070407 46070407 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 46070407 46070407 C T SNP COG3 ENST00000349995 human ensembl 70_37 +1 known missense c.1448 p.P483L 1.000 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC COL22A1 169044 genome.wustl.edu 37 8 139749795 139749795 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 139749795 139749795 G T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.2111 p.P704H 0.065 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC COL22A1 169044 genome.wustl.edu 37 8 139749795 139749795 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 139749795 139749795 G T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.2111 p.P704H 0.065 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC CREM 1390 genome.wustl.edu 37 10 35460216 35460216 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 35460216 35460216 C T SNP CREM ENST00000497686 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CREM HGNC CTIF 9811 genome.wustl.edu 37 18 46343613 46343613 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 46343613 46343613 G A SNP CTIF ENST00000382998 human ensembl 70_37 +1 known missense c.1399 p.E467K 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC CTIF 9811 genome.wustl.edu 37 18 46343613 46343613 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 46343613 46343613 G A SNP CTIF ENST00000382998 human ensembl 70_37 +1 known missense c.1399 p.E467K 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC DEDD2 162989 genome.wustl.edu 37 19 42720852 42720852 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 42720852 42720852 G A SNP DEDD2 ENST00000595337 human ensembl 70_37 -1 known missense c.308 p.A103V 0.980 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD2 HGNC DNAH9 1770 genome.wustl.edu 37 17 11511460 11511460 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 11511460 11511460 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.432 p.V144 0.940 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 DNAH9 HGNC DNAH9 1770 genome.wustl.edu 37 17 11511460 11511460 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 11511460 11511460 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.432 p.V144 0.940 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 DNAH9 HGNC DNMBP 23268 genome.wustl.edu 37 10 101715391 101715391 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 101715391 101715391 G A SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.1840 p.R614C 1.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC DSCAML1 57453 genome.wustl.edu 37 11 117351190 117351190 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 117351190 117351190 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.2933 p.T978M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC DSCAML1 57453 genome.wustl.edu 37 11 117351190 117351190 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 117351190 117351190 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.2933 p.T978M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC DUSP9 1852 genome.wustl.edu 37 X 152913687 152913687 + Nonsense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 152913687 152913687 G T SNP DUSP9 ENST00000342782 human ensembl 70_37 +1 known nonsense c.280 p.E94* 0.001 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC DYRK1A 1859 genome.wustl.edu 37 21 38739647 38739647 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 21 38739647 38739647 C T SNP DYRK1A ENST00000462274 human ensembl 70_37 +1 known rna NULL NULL 0.598 - - - no_errors DYRK1A HGNC EIF3E 3646 genome.wustl.edu 37 8 109260902 109260902 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 109260902 109260902 G C SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known missense c.30 p.I10M 1.000 pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC EIF3E 3646 genome.wustl.edu 37 8 109260902 109260902 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 109260902 109260902 G C SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known missense c.30 p.I10M 1.000 pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ENSG00000179755 0 genome.wustl.edu 37 16 34256794 34256794 + Missense_Mutation SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 34256794 34256794 C A SNP ENSG00000179755 ENST00000319817 human ensembl 70_37 +1 known missense c.38 p.A13E 0.878 NULL NULL - no_errors CTD-2144E22.5 Clone_based_vega_gene ENSG00000199697 0 genome.wustl.edu 37 17 60761284 60761284 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 60761284 60761284 C T SNP ENSG00000199697 ENST00000362827 human ensembl 70_37 +1 novel rna NULL NULL 0.089 - - - no_errors U6 RFAM ENSG00000205293 0 genome.wustl.edu 37 8 58894939 58894939 + RNA SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 58894939 58894939 A T SNP ENSG00000205293 ENST00000522992 human ensembl 70_37 +1 known rna NULL NULL 0.047 - - - no_errors RP11-1112C15.1 Clone_based_vega_gene ENSG00000206744 0 genome.wustl.edu 37 5 82999311 82999311 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 82999311 82999311 A G SNP ENSG00000206744 ENST00000384017 human ensembl 70_37 +1 novel rna NULL NULL 0.277 - - - no_errors U6 RFAM ENSG00000207834 0 genome.wustl.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 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 ENSG00000212036 0 genome.wustl.edu 37 5 14910690 14910691 + RNA INS - - T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 14910690 14910691 - T INS ENSG00000212036 ENST00000390747 human ensembl 70_37 -1 novel rna NULL NULL 0.092:0.075 - - - no_errors AC016575.1 Clone_based_ensembl_gene ENSG00000216204 0 genome.wustl.edu 37 8 56821610 56821610 + RNA SNP A A C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 56821610 56821610 A C SNP ENSG00000216204 ENST00000401385 human ensembl 70_37 +1 novel rna NULL NULL 0.020 - - - no_errors AC018607.1 Clone_based_ensembl_gene ENSG00000225278 0 genome.wustl.edu 37 1 143237000 143237000 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 143237000 143237000 A G SNP ENSG00000225278 ENST00000412196 human ensembl 70_37 -1 known rna NULL NULL 0.960 - - - no_errors BX571672.5 Clone_based_vega_gene ENSG00000226232 0 genome.wustl.edu 37 16 70011737 70011737 + RNA SNP T T C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 70011737 70011737 T C SNP ENSG00000226232 ENST00000525562 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000226252 0 genome.wustl.edu 37 1 47694308 47694308 + RNA SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 47694308 47694308 G T SNP ENSG00000226252 ENST00000422216 human ensembl 70_37 +1 known rna NULL NULL 0.084 - - - no_errors RP1-18D14.7 Clone_based_vega_gene ENSG00000227552 0 genome.wustl.edu 37 1 142557366 142557366 + RNA SNP T T C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 142557366 142557366 T C SNP ENSG00000227552 ENST00000445662 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AL583842.1 Clone_based_vega_gene ENSG00000228944 0 genome.wustl.edu 37 7 24295302 24295302 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 24295302 24295302 G C SNP ENSG00000228944 ENST00000439839 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004485.3 Clone_based_vega_gene ENSG00000231236 0 genome.wustl.edu 37 21 28732862 28732862 + RNA SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 21 28732862 28732862 G T SNP ENSG00000231236 ENST00000420186 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors AP001604.3 Clone_based_vega_gene ENSG00000232100 0 genome.wustl.edu 37 1 218217116 218217116 + RNA SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 218217116 218217116 C G SNP ENSG00000232100 ENST00000456026 human ensembl 70_37 +1 known rna NULL NULL 0.382 - - - no_errors RP11-152L7.2 Clone_based_vega_gene ENSG00000232190 0 genome.wustl.edu 37 16 87097120 87097121 + RNA INS - - T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 87097120 87097121 - T INS ENSG00000232190 ENST00000430050 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-134D3.1 Clone_based_vega_gene ENSG00000232225 0 genome.wustl.edu 37 13 89868280 89868280 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 89868280 89868280 C T SNP ENSG00000232225 ENST00000445027 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors RP11-143O10.1 Clone_based_vega_gene ENSG00000232719 0 genome.wustl.edu 37 2 201966480 201966481 + RNA INS - - T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 201966480 201966481 - T INS ENSG00000232719 ENST00000448256 human ensembl 70_37 +1 known rna NULL NULL 0.080:0.072 - - - no_errors RP11-13J8.1 Clone_based_vega_gene ENSG00000233491 0 genome.wustl.edu 37 7 81205930 81205930 + RNA SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 81205930 81205930 C G SNP ENSG00000233491 ENST00000413944 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC010091.1 Clone_based_vega_gene ENSG00000233973 0 genome.wustl.edu 37 1 73802932 73802932 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 73802932 73802932 C T SNP ENSG00000233973 ENST00000440762 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-598G3.1 Clone_based_vega_gene ENSG00000234170 0 genome.wustl.edu 37 10 2488474 2488474 + RNA SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 2488474 2488474 A T SNP ENSG00000234170 ENST00000414107 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-446F3.2 Clone_based_vega_gene ENSG00000234653 0 genome.wustl.edu 37 2 77236215 77236215 + RNA SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 77236215 77236215 A T SNP ENSG00000234653 ENST00000445178 human ensembl 70_37 +1 known rna NULL NULL 0.650 - - - no_errors AC079117.1 Clone_based_vega_gene ENSG00000239235 0 genome.wustl.edu 37 2 54198225 54198225 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 54198225 54198225 G A SNP ENSG00000239235 ENST00000458030 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC008280.5 Clone_based_vega_gene ENSG00000249007 0 genome.wustl.edu 37 1 201984068 201984068 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 201984068 201984068 C T SNP ENSG00000249007 ENST00000504773 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-510N19.5 Clone_based_vega_gene ENSG00000249899 0 genome.wustl.edu 37 5 52228251 52228251 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 52228251 52228251 C T SNP ENSG00000249899 ENST00000505701 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2175A23.1 Clone_based_vega_gene ENSG00000250410 0 genome.wustl.edu 37 4 186311904 186311904 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 186311904 186311904 G C SNP ENSG00000250410 ENST00000514884 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-714G18.1 Clone_based_vega_gene ENSG00000251487 0 genome.wustl.edu 37 5 19035868 19035868 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 19035868 19035868 C T SNP ENSG00000251487 ENST00000513955 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-124N3.2 Clone_based_vega_gene ENSG00000253864 0 genome.wustl.edu 37 5 148793052 148793052 + RNA SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 148793052 148793052 C G SNP ENSG00000253864 ENST00000518014 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors AC131025.8 Clone_based_vega_gene ENSG00000257898 0 genome.wustl.edu 37 14 19687776 19687776 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 19687776 19687776 G A SNP ENSG00000257898 ENST00000550717 human ensembl 70_37 -1 known rna NULL NULL 0.294 - - - no_errors RP11-496I2.3 Clone_based_vega_gene ENSG00000258702 0 genome.wustl.edu 37 14 97059158 97059158 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 97059158 97059158 C T SNP ENSG00000258702 ENST00000553378 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-433J8.1 Clone_based_vega_gene ENSG00000258702 0 genome.wustl.edu 37 14 97059916 97059916 + RNA SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 97059916 97059916 T A SNP ENSG00000258702 ENST00000553378 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-433J8.1 Clone_based_vega_gene ENSG00000258820 0 genome.wustl.edu 37 14 75738350 75738350 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 75738350 75738350 G A SNP ENSG00000258820 ENST00000555106 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-293M10.2 Clone_based_vega_gene ENSG00000259242 0 genome.wustl.edu 37 19 19719158 19719159 + RNA INS - - A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 19719158 19719159 - A INS ENSG00000259242 ENST00000559614 human ensembl 70_37 +1 known rna NULL NULL 0.213:0.211 - - - no_errors AC002306.1 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102294715 102294715 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 102294715 102294715 C T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259664 0 genome.wustl.edu 37 15 97914087 97914087 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 97914087 97914087 A G SNP ENSG00000259664 ENST00000558621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2147F2.2 Clone_based_vega_gene ENSG00000260734 0 genome.wustl.edu 37 16 71466050 71466050 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 71466050 71466050 G A SNP ENSG00000260734 ENST00000561754 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors RP11-510M2.4 Clone_based_vega_gene ENSG00000260738 0 genome.wustl.edu 37 13 100649282 100649283 + RNA INS - - TGTG TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 100649282 100649283 - TGTG INS ENSG00000260738 ENST00000564841 human ensembl 70_37 -1 known rna NULL NULL 0.643:0.748 - - - no_errors RP11-12G12.6 Clone_based_vega_gene ENSG00000260766 0 genome.wustl.edu 37 1 159996007 159996007 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 159996007 159996007 C T SNP ENSG00000260766 ENST00000562313 human ensembl 70_37 -1 known rna NULL NULL 0.046 - - - no_errors RP11-226L15.5 Clone_based_vega_gene ENSG00000260862 0 genome.wustl.edu 37 16 82858525 82858525 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 82858525 82858525 C T SNP ENSG00000260862 ENST00000567359 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-22H5.2 Clone_based_vega_gene ENSG00000260862 0 genome.wustl.edu 37 16 82858773 82858773 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 82858773 82858773 A G SNP ENSG00000260862 ENST00000567359 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-22H5.2 Clone_based_vega_gene ENSG00000260996 0 genome.wustl.edu 37 9 140189552 140189552 + RNA SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 9 140189552 140189552 C A SNP ENSG00000260996 ENST00000566954 human ensembl 70_37 -1 known rna NULL NULL 0.082 - - - no_errors RP13-122B23.8 Clone_based_vega_gene ENSG00000261400 0 genome.wustl.edu 37 19 32081070 32081070 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 32081070 32081070 G A SNP ENSG00000261400 ENST00000562167 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011525.2 Clone_based_vega_gene ENSG00000261715 0 genome.wustl.edu 37 18 37650343 37650343 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 37650343 37650343 G A SNP ENSG00000261715 ENST00000566101 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-653G8.2 Clone_based_vega_gene ENSG00000261754 0 genome.wustl.edu 37 19 35304114 35304114 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 35304114 35304114 G C SNP ENSG00000261754 ENST00000561778 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-523E23.1 Clone_based_vega_gene ENSG00000264538 0 genome.wustl.edu 37 17 29085344 29085344 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 29085344 29085344 C T SNP ENSG00000264538 ENST00000497969 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SUZ12P Clone_based_vega_gene ERCC6 2074 genome.wustl.edu 37 10 50732789 50732789 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 50732789 50732789 C T SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known missense c.687 p.M229I 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ERCC6 2074 genome.wustl.edu 37 10 50732789 50732789 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 50732789 50732789 C T SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known missense c.687 p.M229I 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC EVPL 2125 genome.wustl.edu 37 17 74018012 74018012 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 74018012 74018012 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known missense c.743 p.R248H 0.814 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC MVB12B 89853 genome.wustl.edu 37 9 129267933 129267934 + RNA INS - - TG TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 9 129267933 129267934 - TG INS FAM125B ENST00000485886 human ensembl 70_37 +1 known rna NULL NULL 0.067:0.094 - - - no_errors FAM125B HGNC FAM47C 442444 genome.wustl.edu 37 X 37026576 37026576 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 37026576 37026576 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known silent c.93 p.A31 0.009 NULL NULL - no_errors FAM47C HGNC FAM47C 442444 genome.wustl.edu 37 X 37026576 37026576 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 37026576 37026576 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known silent c.93 p.A31 0.009 NULL NULL - no_errors FAM47C HGNC FBXO25 26260 genome.wustl.edu 37 8 382894 382894 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 382894 382894 C T SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.247 p.R83C 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC FBXO25 26260 genome.wustl.edu 37 8 382894 382894 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 382894 382894 C T SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.247 p.R83C 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC FCGBP 8857 genome.wustl.edu 37 19 40380155 40380155 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 40380155 40380155 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.11160 p.F3720 0.991 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FLJ46257 0 genome.wustl.edu 37 22 48026582 48026582 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 48026582 48026582 C T SNP FLJ46257 ENST00000380990 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-191L9.6 Clone_based_vega_gene GABRA1 2554 genome.wustl.edu 37 5 161281255 161281255 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 161281255 161281255 C T SNP GABRA1 ENST00000023897 human ensembl 70_37 +1 known missense c.166 p.R56C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC GABRA1 2554 genome.wustl.edu 37 5 161281255 161281255 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 161281255 161281255 C T SNP GABRA1 ENST00000023897 human ensembl 70_37 +1 known missense c.166 p.R56C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC LINC00852 84657 genome.wustl.edu 37 3 10326899 10326899 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 10326899 10326899 C T SNP GHRLOS2 ENST00000475197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GHRLOS2 HGNC GTPBP6 8225 genome.wustl.edu 37 X 229380 229380 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 229380 229380 C T SNP GTPBP6 ENST00000485332 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors GTPBP6 HGNC GTPBP6 8225 genome.wustl.edu 37 X 229380 229380 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 229380 229380 C T SNP GTPBP6 ENST00000485332 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors GTPBP6 HGNC GXYLT1 283464 genome.wustl.edu 37 12 42499642 42499642 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 42499642 42499642 C T SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.842 p.R281Q 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC GXYLT1 283464 genome.wustl.edu 37 12 42499642 42499642 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 42499642 42499642 C T SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.842 p.R281Q 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC HECTD2 143279 genome.wustl.edu 37 10 93249462 93249462 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 93249462 93249462 G C SNP HECTD2 ENST00000498446 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HECTD2 HGNC IGDCC3 9543 genome.wustl.edu 37 15 65628166 65628166 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 65628166 65628166 C G SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.538 p.D180H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC IGDCC3 9543 genome.wustl.edu 37 15 65628166 65628166 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 65628166 65628166 C G SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.538 p.D180H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC KCNQ1OT1 10984 genome.wustl.edu 37 11 2714892 2714892 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 2714892 2714892 C T SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC KRT7 3855 genome.wustl.edu 37 12 52641573 52641573 + RNA SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 52641573 52641573 C A SNP KRT7 ENST00000550153 human ensembl 70_37 +1 putative rna NULL NULL 0.016 - - - no_errors KRT7 HGNC LAMA5 3911 genome.wustl.edu 37 20 60901971 60901971 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 60901971 60901971 G A SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.5164 p.R1722W 0.995 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LAMA5 3911 genome.wustl.edu 37 20 60901971 60901971 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 60901971 60901971 G A SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.5164 p.R1722W 0.995 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LINC00521 256369 genome.wustl.edu 37 14 94477664 94477664 + RNA SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 94477664 94477664 G T SNP LINC00521 ENST00000314629 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors LINC00521 HGNC LINC00669 647946 genome.wustl.edu 37 18 37380143 37380143 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 37380143 37380143 G C SNP LINC00669 ENST00000591629 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors LINC00669 HGNC LOC100506206 100506206 genome.wustl.edu 37 1 179699400 179699400 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 179699400 179699400 G C SNP LOC100506206 ENST00000423879 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-12M5.1 Clone_based_vega_gene LOC100506272 100506272 genome.wustl.edu 37 4 188476232 188476232 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 188476232 188476232 C T SNP LOC100506272 ENST00000515660 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-565A3.2 Clone_based_vega_gene LOC100507242 100507242 genome.wustl.edu 37 14 101426340 101426340 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 101426340 101426340 C T SNP LOC100507242 ENST00000443252 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors AL132709.5 Clone_based_vega_gene LOC389634 389634 genome.wustl.edu 37 12 8539755 8539756 + RNA INS - - TGG TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 8539755 8539756 - TGG INS LOC389634 ENST00000538304 human ensembl 70_37 -1 known rna NULL NULL 0.141:0.141 - - - no_errors RP11-90D4.2 Clone_based_vega_gene LOC400891 400891 genome.wustl.edu 37 22 21416350 21416350 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 21416350 21416350 C T SNP LOC400891 ENST00000473769 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC002472.13 Clone_based_vega_gene LRP1B 53353 genome.wustl.edu 37 2 141032110 141032110 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 141032110 141032110 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.13025 p.S4342N 0.863 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRP1B 53353 genome.wustl.edu 37 2 141032110 141032110 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 141032110 141032110 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.13025 p.S4342N 0.863 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC MAP2K2 5605 genome.wustl.edu 37 19 4099776 4099776 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 4099776 4099776 C T SNP MAP2K2 ENST00000595715 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP2K2 HGNC MAPKAPK2 9261 genome.wustl.edu 37 1 206902307 206902307 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 206902307 206902307 G C SNP MAPKAPK2 ENST00000493447 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAPKAPK2 HGNC MAPKAPK2 9261 genome.wustl.edu 37 1 206902307 206902307 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 206902307 206902307 G C SNP MAPKAPK2 ENST00000493447 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAPKAPK2 HGNC MIOX 55586 genome.wustl.edu 37 22 50928004 50928004 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 50928004 50928004 C T SNP MIOX ENST00000216075 human ensembl 70_37 +1 known missense c.680 p.T227M 0.990 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC MIOX 55586 genome.wustl.edu 37 22 50928004 50928004 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 50928004 50928004 C T SNP MIOX ENST00000216075 human ensembl 70_37 +1 known missense c.680 p.T227M 0.990 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC MSRB2 22921 genome.wustl.edu 37 10 23384576 23384576 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 23384576 23384576 C T SNP MSRB2 ENST00000376510 human ensembl 70_37 +1 known silent c.39 p.L13 0.001 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB2 HGNC MTBP 27085 genome.wustl.edu 37 8 121553455 121553455 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 121553455 121553455 G A SNP MTBP ENST00000519841 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MTBP HGNC MUC12 10071 genome.wustl.edu 37 7 100641744 100641744 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100641744 100641744 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8329 p.R2777C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MUC17 140453 genome.wustl.edu 37 7 100683521 100683521 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100683521 100683521 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.8824 p.G2942S 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC17 140453 genome.wustl.edu 37 7 100683521 100683521 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100683521 100683521 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.8824 p.G2942S 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC4 4585 genome.wustl.edu 37 3 195512882 195512882 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 195512882 195512882 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5569 p.L1857V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77834572 77834572 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 77834572 77834572 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2008 p.D670N 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77834572 77834572 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 77834572 77834572 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2008 p.D670N 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYH8 4626 genome.wustl.edu 37 17 10304411 10304411 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 10304411 10304411 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.3206 p.T1069K 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 10304411 10304411 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 10304411 10304411 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.3206 p.T1069K 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 MYOM3 127294 genome.wustl.edu 37 1 24434550 24434550 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 24434550 24434550 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.178 p.E60K 0.126 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC MYOM3 127294 genome.wustl.edu 37 1 24434550 24434550 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 24434550 24434550 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.178 p.E60K 0.126 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC HAND2-AS1 79804 genome.wustl.edu 37 4 174448614 174448614 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 174448614 174448614 G A SNP NBLA00301 ENST00000512099 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-471J12.1 Clone_based_vega_gene NCAPG2 54892 genome.wustl.edu 37 7 158458073 158458073 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 158458073 158458073 G A SNP NCAPG2 ENST00000474940 human ensembl 70_37 -1 known rna NULL NULL 0.042 - - - no_errors NCAPG2 HGNC NPM2 10361 genome.wustl.edu 37 8 21882273 21882273 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 21882273 21882273 G C SNP NPM2 ENST00000520180 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NPM2 HGNC OBSL1 23363 genome.wustl.edu 37 2 220432984 220432984 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 220432984 220432984 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.1075 p.V359M 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OBSL1 23363 genome.wustl.edu 37 2 220432984 220432984 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 220432984 220432984 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.1075 p.V359M 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OR10AB1P 390091 genome.wustl.edu 37 11 7750751 7750751 + Missense_Mutation SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 7750751 7750751 A G SNP OR10AB1P ENST00000317359 human ensembl 70_37 +1 known missense c.836 p.D279G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR10AB1P HGNC OR2M7 391196 genome.wustl.edu 37 1 248487506 248487506 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 248487506 248487506 C T SNP OR2M7 ENST00000317965 human ensembl 70_37 -1 known missense c.365 p.R122H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC OR2M7 391196 genome.wustl.edu 37 1 248487506 248487506 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 248487506 248487506 C T SNP OR2M7 ENST00000317965 human ensembl 70_37 -1 known missense c.365 p.R122H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC PCBP1-AS1 400960 genome.wustl.edu 37 2 70191501 70191501 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 70191501 70191501 C T SNP PCBP1-AS1 ENST00000435880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCBP1-AS1 HGNC PCBP3 54039 genome.wustl.edu 37 21 47320525 47320525 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 21 47320525 47320525 G T SNP PCBP3 ENST00000400314 human ensembl 70_37 +1 known missense c.210 p.K70N 1.000 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC PEAK1 79834 genome.wustl.edu 37 15 77472802 77472802 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 77472802 77472802 G A SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.1467 p.L489 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PEAK1 79834 genome.wustl.edu 37 15 77472802 77472802 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 77472802 77472802 G A SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.1467 p.L489 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PHKA1 5255 genome.wustl.edu 37 X 71932674 71932674 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 71932674 71932674 G A SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known missense c.184 p.R62W 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC PHKA1 5255 genome.wustl.edu 37 X 71932674 71932674 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 71932674 71932674 G A SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known missense c.184 p.R62W 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC PHLDB3 653583 genome.wustl.edu 37 19 43979673 43979673 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 43979673 43979673 G C SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known missense c.1812 p.F604L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC PHLDB3 653583 genome.wustl.edu 37 19 43979673 43979673 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 43979673 43979673 G C SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known missense c.1812 p.F604L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC POLR2A 5430 genome.wustl.edu 37 17 7406712 7406712 + Silent SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 7406712 7406712 C G SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.2937 p.L979 0.667 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC PPTC7 160760 genome.wustl.edu 37 12 110983707 110983707 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 110983707 110983707 C T SNP PPTC7 ENST00000354300 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPTC7 HGNC PPTC7 160760 genome.wustl.edu 37 12 110983707 110983707 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 110983707 110983707 C T SNP PPTC7 ENST00000354300 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPTC7 HGNC PSMB8 5696 genome.wustl.edu 37 6 32810842 32810842 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 32810842 32810842 C T SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.172 p.G58S 0.003 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC PSMB8 5696 genome.wustl.edu 37 6 32810842 32810842 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 32810842 32810842 C T SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.172 p.G58S 0.003 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC PTDSS1 9791 genome.wustl.edu 37 8 97295861 97295861 + RNA SNP A A C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 97295861 97295861 A C SNP PTDSS1 ENST00000518776 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTDSS1 HGNC PTPN13 5783 genome.wustl.edu 37 4 87693987 87693987 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 87693987 87693987 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.5240 p.S1747L 0.011 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPN13 5783 genome.wustl.edu 37 4 87693987 87693987 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 87693987 87693987 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.5240 p.S1747L 0.011 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPN14 5784 genome.wustl.edu 37 1 214549657 214549657 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 214549657 214549657 G A SNP PTPN14 ENST00000366956 human ensembl 70_37 -1 known nonsense c.2812 p.R938* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC PTPN14 5784 genome.wustl.edu 37 1 214549657 214549657 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 214549657 214549657 G A SNP PTPN14 ENST00000366956 human ensembl 70_37 -1 known nonsense c.2812 p.R938* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC RABGAP1L 9910 genome.wustl.edu 37 1 174274226 174274226 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 174274226 174274226 G C SNP RABGAP1L ENST00000251507 human ensembl 70_37 +1 known missense c.1426 p.G476R 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC RABGAP1L 9910 genome.wustl.edu 37 1 174274226 174274226 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 174274226 174274226 G C SNP RABGAP1L ENST00000251507 human ensembl 70_37 +1 known missense c.1426 p.G476R 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC RASA3 22821 genome.wustl.edu 37 13 114806481 114806481 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 114806481 114806481 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.367 p.V123M 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC RASA3 22821 genome.wustl.edu 37 13 114806481 114806481 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 114806481 114806481 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.367 p.V123M 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC REL 5966 genome.wustl.edu 37 2 61144086 61144086 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 61144086 61144086 C G SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.469 p.P157A 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC REL 5966 genome.wustl.edu 37 2 61144086 61144086 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 61144086 61144086 C G SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.469 p.P157A 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC RGS13 6003 genome.wustl.edu 37 1 192614607 192614607 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 192614607 192614607 G A SNP RGS13 ENST00000482095 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RGS13 HGNC RNF165 494470 genome.wustl.edu 37 18 43914264 43914264 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 43914264 43914264 C T SNP RNF165 ENST00000269439 human ensembl 70_37 +1 known silent c.27 p.L9 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC RNF19B 127544 genome.wustl.edu 37 1 33409700 33409700 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 33409700 33409700 C T SNP RNF19B ENST00000373456 human ensembl 70_37 -1 known missense c.1325 p.R442H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC RNF19B 127544 genome.wustl.edu 37 1 33409700 33409700 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 33409700 33409700 C T SNP RNF19B ENST00000373456 human ensembl 70_37 -1 known missense c.1325 p.R442H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC RPS6KA2-IT1 100874353 genome.wustl.edu 37 6 166876574 166876574 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 166876574 166876574 G C SNP RPS6KA2-IT1 ENST00000416770 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS6KA2-IT1 HGNC SARM1 23098 genome.wustl.edu 37 17 26715280 26715280 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 26715280 26715280 G C SNP SARM1 ENST00000457710 human ensembl 70_37 +1 novel missense c.1616 p.G539A 1.000 superfamily_TIR_dom,smart_TIR_dom pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC SEPT9 10801 genome.wustl.edu 37 17 75370193 75370193 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 75370193 75370193 C T SNP SEPT9 ENST00000587514 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SEPT9 HGNC SNAI3-AS1 197187 genome.wustl.edu 37 16 88741249 88741249 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 88741249 88741249 G A SNP SNAI3-AS1 ENST00000563475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAI3-AS1 HGNC SPANXN5 494197 genome.wustl.edu 37 X 52826382 52826382 + Nonsense_Mutation SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 52826382 52826382 T A SNP SPANXN5 ENST00000375511 human ensembl 70_37 -1 known nonsense c.7 p.K3* 0.005 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN5 HGNC SPANXN5 494197 genome.wustl.edu 37 X 52826382 52826382 + Nonsense_Mutation SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 52826382 52826382 T A SNP SPANXN5 ENST00000375511 human ensembl 70_37 -1 known nonsense c.7 p.K3* 0.005 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN5 HGNC SPEF2 79925 genome.wustl.edu 37 5 35695837 35695837 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 35695837 35695837 G T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.1976 p.S659I 0.862 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC SPEF2 79925 genome.wustl.edu 37 5 35695837 35695837 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 35695837 35695837 G T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.1976 p.S659I 0.862 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC STARD13-AS 100874241 genome.wustl.edu 37 13 33854108 33854109 + RNA INS - - A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 33854108 33854109 - A INS STARD13-AS2 ENST00000585861 human ensembl 70_37 +1 known rna NULL NULL 0.161:0.041 - - - no_errors STARD13-AS2 HGNC TBP 6908 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 70_37 +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC TSPAN10 83882 genome.wustl.edu 37 17 79613521 79613521 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 79613521 79613521 C T SNP TSPAN10 ENST00000571707 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TSPAN10 HGNC VWA7 80737 genome.wustl.edu 37 6 31733527 31733527 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 31733527 31733527 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known missense c.2548 p.R850W 0.001 NULL NULL - no_errors VWA7 HGNC VWA7 80737 genome.wustl.edu 37 6 31733527 31733527 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 31733527 31733527 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known missense c.2548 p.R850W 0.001 NULL NULL - no_errors VWA7 HGNC XRN2 22803 genome.wustl.edu 37 20 21367612 21367612 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 21367612 21367612 C G SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known missense c.2755 p.P919A 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC XRN2 22803 genome.wustl.edu 37 20 21367612 21367612 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 21367612 21367612 C G SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known missense c.2755 p.P919A 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ZAN 7455 genome.wustl.edu 37 7 100349807 100349807 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100349807 100349807 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.2079 p.T693 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZAN 7455 genome.wustl.edu 37 7 100349807 100349807 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100349807 100349807 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.2079 p.T693 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZNF232 7775 genome.wustl.edu 37 17 5009279 5009279 + Missense_Mutation SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 5009279 5009279 C A SNP ZNF232 ENST00000250076 human ensembl 70_37 -1 known missense c.1175 p.C392F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ZNF232 7775 genome.wustl.edu 37 17 5009279 5009279 + Missense_Mutation SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 5009279 5009279 C A SNP ZNF232 ENST00000250076 human ensembl 70_37 -1 known missense c.1175 p.C392F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ZNF350 59348 genome.wustl.edu 37 19 52468256 52468256 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 52468256 52468256 C T SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known missense c.1450 p.V484I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ZNF350 59348 genome.wustl.edu 37 19 52468256 52468256 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 52468256 52468256 C T SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known missense c.1450 p.V484I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ZNF493 284443 genome.wustl.edu 37 19 21607218 21607218 + Nonsense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 21607218 21607218 C G SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known nonsense c.1373 p.S458* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ZNF493 284443 genome.wustl.edu 37 19 21607218 21607218 + Nonsense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 21607218 21607218 C G SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known nonsense c.1373 p.S458* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ZNF638 27332 genome.wustl.edu 37 2 71645629 71645629 + RNA DEL T T - TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 71645629 71645629 T - DEL ZNF638 ENST00000483421 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF638 HGNC ZNF644 84146 genome.wustl.edu 37 1 91403562 91403562 + Silent SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 91403562 91403562 A G SNP ZNF644 ENST00000337393 human ensembl 70_37 -1 known silent c.3168 p.H1056 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ZNF644 84146 genome.wustl.edu 37 1 91403562 91403562 + Silent SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 91403562 91403562 A G SNP ZNF644 ENST00000337393 human ensembl 70_37 -1 known silent c.3168 p.H1056 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ZNF773 374928 genome.wustl.edu 37 19 58018106 58018106 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018106 58018106 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.643 p.G215W 0.960 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ZNF773 374928 genome.wustl.edu 37 19 58018106 58018106 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018106 58018106 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.643 p.G215W 0.960 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ZNF773 374928 genome.wustl.edu 37 19 58018107 58018107 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018107 58018107 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.644 p.G215A 0.961 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ZNF773 374928 genome.wustl.edu 37 19 58018107 58018107 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018107 58018107 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.644 p.G215A 0.961 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ZNF814 730051 genome.wustl.edu 37 19 58384594 58384594 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384594 58384594 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known nonsense c.2164 p.Q722* 0.963 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ZNF814 730051 genome.wustl.edu 37 19 58384594 58384594 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384594 58384594 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known nonsense c.2164 p.Q722* 0.963 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ZNF814 730051 genome.wustl.edu 37 19 58384729 58384729 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384729 58384729 G C SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.2029 p.L677V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ZNF814 730051 genome.wustl.edu 37 19 58384729 58384729 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384729 58384729 G C SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.2029 p.L677V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ZSCAN1 284312 genome.wustl.edu 37 19 58564883 58564883 + Nonsense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58564883 58564883 G T SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known nonsense c.691 p.E231* 0.528 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ZSCAN1 284312 genome.wustl.edu 37 19 58564883 58564883 + Nonsense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58564883 58564883 G T SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known nonsense c.691 p.E231* 0.528 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC