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 ZNF732 0 genome.wustl.edu 36 4 238350 238350 + Missense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 4 238350 238350 A T SNP ZNF732 ENST00000356347 human ensembl 54_36p +1 known missense c.445 p.T149S 0.042 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon ARHGEF10 9639 genome.wustl.edu 36 8 1869508 1869508 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 8 1869508 1869508 C A SNP ARHGEF10 NM_014629 human genbank 54_36p +1 reviewed missense c.3215 p.A1072D 0.003 superfamily_WD40_like superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,superfamily_WD40_like,PatternScan_THIOL_PROTEASE_HIS - no_errors ABCA3 21 genome.wustl.edu 36 16 2313601 2313601 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 2313601 2313601 C T SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed nonsense c.537 p.W179* 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors OR1A1 8383 genome.wustl.edu 36 17 3065914 3065914 + Missense_Mutation SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 3065914 3065914 A C SNP OR1A1 NM_014565 human genbank 54_36p +1 provisional missense c.250 p.N84H 0.004 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors JAK2 3717 genome.wustl.edu 36 9 5116737 5116737 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 9 5116737 5116737 C T SNP JAK2 NM_004972 human genbank 54_36p +1 reviewed silent c.3345 p.S1115 0.998 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors OR52E8 390079 genome.wustl.edu 36 11 5834792 5834792 + Silent SNP T T A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 5834792 5834792 T A SNP OR52E8 NM_001005168 human genbank 54_36p -1 provisional silent c.717 p.R239 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors HPX 3263 genome.wustl.edu 36 11 6418482 6418482 + Silent SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 6418482 6418482 C G SNP HPX NM_000613 human genbank 54_36p -1 provisional silent c.138 p.V46 0.002 NULL superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN - no_errors TP53 7157 genome.wustl.edu 36 17 7517867 7517867 + Missense_Mutation SNP C T T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 7517867 7517867 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.796 p.G266R 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors ADCY2 108 genome.wustl.edu 36 5 7748887 7748887 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 7748887 7748887 G T SNP ADCY2 NM_020546 human genbank 54_36p +1 reviewed missense c.892 p.G298C 1.000 HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors MTRR 4552 genome.wustl.edu 36 5 7948940 7948940 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 7948940 7948940 C G SNP MTRR NM_024010 human genbank 54_36p +1 reviewed missense c.1732 p.P578A 0.997 superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1 superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1 - no_errors PDE4A 5141 genome.wustl.edu 36 19 10429608 10429608 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 10429608 10429608 C G SNP PDE4A NM_006202 human genbank 54_36p +1 validated missense c.214 p.Q72E 0.947 NULL superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors GSPT1 2935 genome.wustl.edu 36 16 11899212 11899212 + Missense_Mutation SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 11899212 11899212 A C SNP GSPT1 NM_002094 human genbank 54_36p -1 validated missense c.8 p.L3R 1.000 NULL superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C - no_errors SCIN 85477 genome.wustl.edu 36 7 12658027 12658027 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 12658027 12658027 G T SNP SCIN NM_033128 human genbank 54_36p +1 validated nonsense c.1255 p.E419* 1.000 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin superfamily_C-terminal gelsolin-like domain of Sec23/24,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins - no_errors BOD1L 259282 genome.wustl.edu 36 4 13226221 13226221 + Silent SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 4 13226221 13226221 T C SNP BOD1L NM_148894 human genbank 54_36p -1 validated silent c.372 p.S124 1.000 superfamily_SSF81995 superfamily_SSF81995,HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors CLEC17A 388512 genome.wustl.edu 36 19 14566349 14566349 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 14566349 14566349 C T SNP CLEC17A NM_207390 human genbank 54_36p +1 validated missense c.247 p.P83S 0.516 NULL superfamily_C-type lectin-like,HMMPfam_Lectin_C - no_errors PLVAP 83483 genome.wustl.edu 36 19 17337441 17337441 + Missense_Mutation SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 17337441 17337441 A G SNP PLVAP NM_031310 human genbank 54_36p -1 provisional missense c.833 p.L278P 0.107 HMMPfam_PV-1 HMMPfam_PV-1 - no_errors STAM 8027 genome.wustl.edu 36 10 17787000 17787000 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 17787000 17787000 C T SNP STAM NM_003473 human genbank 54_36p +1 reviewed silent c.1026 p.L342 1.000 NULL HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,HMMPfam_UIM,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors DKFZp686A1627 266695 genome.wustl.edu 36 13 18520223 18520223 + RNA SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 13 18520223 18520223 C G SNP DKFZp686A1627 NR_002801 human genbank 54_36p -1 provisional rna NULL NULL 0.972 - - - pseudogene MRGPRX1 259249 genome.wustl.edu 36 11 18912459 18912459 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 18912459 18912459 G T SNP MRGPRX1 NM_147199 human genbank 54_36p -1 provisional missense c.449 p.S150Y 0.813 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FERD3L 222894 genome.wustl.edu 36 7 19151265 19151265 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 19151265 19151265 G A SNP FERD3L NM_152898 human genbank 54_36p -1 validated silent c.246 p.R82 0.001 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors MAPK1 5594 genome.wustl.edu 36 22 20490160 20490160 + Silent SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 22 20490160 20490160 G C SNP MAPK1 NM_002745 human genbank 54_36p -1 reviewed silent c.471 p.L157 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST - no_errors ZNF626 199777 genome.wustl.edu 36 19 20600249 20600249 + Missense_Mutation SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 20600249 20600249 T C SNP ZNF626 NM_001076675 human genbank 54_36p -1 validated missense c.274 p.K92E 0.005 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ENSG00000180747 0 genome.wustl.edu 36 16 22399897 22399897 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 22399897 22399897 G C SNP ENSG00000180747 ENST00000327173 human ensembl 54_36p +1 known missense c.722 p.C241S 1.000 NULL NULL - no_start_codon NOS2 4843 genome.wustl.edu 36 17 23116844 23116844 + Missense_Mutation SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 23116844 23116844 A G SNP NOS2 NM_000625 human genbank 54_36p -1 reviewed missense c.2272 p.S758P 0.874 superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1 superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_NO_synthase,PatternScan_NOS,superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1 - no_errors LUZP1 7798 genome.wustl.edu 36 1 23290768 23290768 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 23290768 23290768 C T SNP LUZP1 NM_033631 human genbank 54_36p -1 reviewed silent c.2574 p.A858 0.143 NULL HMMPfam_CortBP2 - no_errors COG7 91949 genome.wustl.edu 36 16 23343608 23343608 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 23343608 23343608 G A SNP COG7 NM_153603 human genbank 54_36p -1 validated silent c.972 p.F324 0.984 HMMPfam_COG7 HMMPfam_COG7 - no_errors PARP4 143 genome.wustl.edu 36 13 23924706 23924706 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 13 23924706 23924706 G C SNP PARP4 NM_006437 human genbank 54_36p -1 reviewed missense c.2852 p.T951R 1.000 superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA HMMPfam_BRCT,superfamily_BRCT,HMMSmart_BRCT,superfamily_PARP_reg,HMMPfam_PARP,superfamily_SSF56399,HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA - no_errors SUPT6H 6830 genome.wustl.edu 36 17 24033108 24033108 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 24033108 24033108 G C SNP SUPT6H NM_003170 human genbank 54_36p +1 validated missense c.1580 p.C527S 1.000 NULL HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252 - no_errors PFN4 375189 genome.wustl.edu 36 2 24198801 24198801 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 24198801 24198801 C T SNP PFN4 NM_199346 human genbank 54_36p -1 provisional missense c.109 p.G37S 0.995 superfamily_Profilin (actin-binding protein),HMMPfam_Profilin,HMMSmart_SM00392 superfamily_Profilin (actin-binding protein),HMMPfam_Profilin,HMMSmart_SM00392 - no_errors POLA1 5422 genome.wustl.edu 36 X 24740798 24740798 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 X 24740798 24740798 G T SNP POLA1 NM_016937 human genbank 54_36p +1 validated missense c.3175 p.V1059F 1.000 superfamily_SSF56672,HMMPfam_DNA_pol_B superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B,PatternScan_DNA_POLYMERASE_B,HMMPfam_zf-DNA_Pol,superfamily_SSF90234 - no_errors SEZ6L 23544 genome.wustl.edu 36 22 25023012 25023012 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 22 25023012 25023012 C T SNP SEZ6L NM_021115 human genbank 54_36p +1 validated silent c.1128 p.D376 0.701 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB - no_errors HPS4 89781 genome.wustl.edu 36 22 25190099 25190099 + Silent SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 22 25190099 25190099 T C SNP HPS4 NM_022081 human genbank 54_36p -1 reviewed silent c.1497 p.E499 0.000 NULL NULL - no_errors NGLY1 55768 genome.wustl.edu 36 3 25752644 25752644 + Missense_Mutation SNP T T A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 25752644 25752644 T A SNP NGLY1 NM_018297 human genbank 54_36p -1 reviewed missense c.1004 p.D335V 1.000 HMMPfam_Transglut_core,superfamily_Cysteine proteinases,HMMSmart_SM00460 HMMPfam_PUB,HMMSmart_SM00580,HMMPfam_Transglut_core,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMSmart_SM00613,HMMPfam_DUF750 - no_errors HERC2 8924 genome.wustl.edu 36 15 26181876 26181876 + Silent SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 15 26181876 26181876 C G SNP HERC2 NM_004667 human genbank 54_36p -1 validated silent c.1905 p.G635 0.968 superfamily_RCC1/BLIP-II,HMMPfam_RCC1 superfamily_RCC1/BLIP-II,HMMPfam_RCC1,HMMSmart_SM00706,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Galactose-binding domain-like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors CNKSR1 10256 genome.wustl.edu 36 1 26387912 26387912 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 26387912 26387912 C T SNP CNKSR1 NM_006314 human genbank 54_36p +1 reviewed silent c.1753 p.L585 0.955 NULL superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2,HMMPfam_CRIC_ras_sig,superfamily_PDZ domain-like,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors NF1 4763 genome.wustl.edu 36 17 26677316 26677316 + Missense_Mutation SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 26677316 26677316 A C SNP NF1 NM_001042492 human genbank 54_36p +1 reviewed missense c.5188 p.T1730P 1.000 HMMSmart_SM00516 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 - no_errors ITPR2 3709 genome.wustl.edu 36 12 26703427 26703427 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 26703427 26703427 G C SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.1772 p.A591G 1.000 superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans - no_errors FAM46B 115572 genome.wustl.edu 36 1 27205759 27205759 + Missense_Mutation SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 27205759 27205759 A G SNP FAM46B NM_052943 human genbank 54_36p -1 validated missense c.538 p.C180R 1.000 HMMPfam_DUF1693 HMMPfam_DUF1693 - no_errors HIST1H2BJ 8970 genome.wustl.edu 36 6 27208176 27208176 + Silent SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 6 27208176 27208176 G C SNP HIST1H2BJ NM_021058 human genbank 54_36p -1 reviewed silent c.333 p.A111 1.000 superfamily_Histone-fold,HMMSmart_SM00427,PatternScan_HISTONE_H2B superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors C8orf80 389643 genome.wustl.edu 36 8 27936767 27936767 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 8 27936767 27936767 C T SNP C8orf80 NM_001010906 human genbank 54_36p -1 predicted missense c.2377 p.G793R 0.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors STX12 23673 genome.wustl.edu 36 1 28021420 28021420 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 28021420 28021420 C G SNP STX12 NM_177424 human genbank 54_36p +1 validated missense c.824 p.T275R 0.979 NULL HMMSmart_SM00503,superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN - no_errors ALK 238 genome.wustl.edu 36 2 29298713 29298713 + Splice_Site SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 29298713 29298713 C T SNP ALK NM_004304 human genbank 54_36p -1 reviewed splice_site c.3515+1 e22+1 1.000 - - - no_errors GAS2L2 246176 genome.wustl.edu 36 17 31096856 31096856 + Silent SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 31096856 31096856 G T SNP GAS2L2 NM_139285 human genbank 54_36p -1 validated silent c.1773 p.P591 0.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors SNTA1 6640 genome.wustl.edu 36 20 31490467 31490467 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 20 31490467 31490467 G C SNP SNTA1 NM_003098 human genbank 54_36p -1 reviewed missense c.337 p.L113V 1.000 HMMSmart_SM00233,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 HMMSmart_SM00233,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PH domain-like,HMMPfam_PH - no_errors FRY 10129 genome.wustl.edu 36 13 31629426 31629426 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 13 31629426 31629426 C T SNP FRY NM_023037 human genbank 54_36p +1 validated silent c.1668 p.Y556 1.000 NULL PatternScan_GHMP_KINASES_ATP - no_errors BAG1 573 genome.wustl.edu 36 9 33251093 33251093 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 9 33251093 33251093 C T SNP BAG1 NM_004323 human genbank 54_36p -1 reviewed missense c.655 p.G219R 1.000 superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,superfamily_BAG domain superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,superfamily_BAG domain,HMMPfam_BAG,HMMSmart_SM00264 - no_errors CCDC49 54883 genome.wustl.edu 36 17 34224648 34224648 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 34224648 34224648 G A SNP CCDC49 NM_017748 human genbank 54_36p -1 provisional silent c.420 p.F140 1.000 NULL HMMPfam_Cir_N - no_errors ENSG00000214581 0 genome.wustl.edu 36 16 34539084 34539084 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 34539084 34539084 G T SNP ENSG00000214581 ENST00000398617 human ensembl 54_36p -1 known missense c.262 p.P88T 0.958 NULL superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_stop_codon CNTFR 1271 genome.wustl.edu 36 9 34554607 34554607 + Silent SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 9 34554607 34554607 C A SNP CNTFR NM_001842 human genbank 54_36p -1 reviewed silent c.309 p.L103 0.883 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3 - no_errors CACNG2 10369 genome.wustl.edu 36 22 35290841 35290841 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 22 35290841 35290841 C T SNP CACNG2 NM_006078 human genbank 54_36p -1 reviewed missense c.475 p.A159T 1.000 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors SPEF2 79925 genome.wustl.edu 36 5 35682628 35682628 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 35682628 35682628 G A SNP SPEF2 NM_024867 human genbank 54_36p +1 validated missense c.688 p.E230K 0.995 NULL HMMPfam_DUF1042,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_hATC - no_errors KCTD20 222658 genome.wustl.edu 36 6 36545862 36545862 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 6 36545862 36545862 C T SNP KCTD20 NM_173562 human genbank 54_36p +1 provisional missense c.10 p.H4Y 0.140 NULL superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra - no_errors LOC728318 728318 genome.wustl.edu 36 17 36600341 36600341 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 36600341 36600341 G C SNP LOC728318 XM_001718456 human genbank 54_36p +1 model missense c.677 p.R226T 0.731 NULL HMMPfam_Keratin_B2 - no_errors EPDR1 54749 genome.wustl.edu 36 7 37926900 37926900 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 37926900 37926900 C T SNP EPDR1 NM_017549 human genbank 54_36p +1 reviewed missense c.194 p.S65F 0.001 NULL HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2 - no_errors HSD17B7P2 158160 genome.wustl.edu 36 10 38685349 38685349 + RNA SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 38685349 38685349 C T SNP HSD17B7P2 NR_003086 human genbank 54_36p +1 provisional rna NULL NULL 0.000 - - - pseudogene LOC727860 727860 genome.wustl.edu 36 10 38984471 38984471 + Splice_Site SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 38984471 38984471 C T SNP LOC727860 XR_037651 human genbank 54_36p -1 model splice_site c.NULL NULL 0.079 - - - pseudogene MPP3 4356 genome.wustl.edu 36 17 39234277 39234277 + RNA SNP C T T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 39234277 39234277 C T SNP MPP3 NR_003562 human genbank 54_36p -1 reviewed rna NULL NULL 0.016 - - - no_errors PTPRT 11122 genome.wustl.edu 36 20 40818516 40818516 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 20 40818516 40818516 C A SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed nonsense c.859 p.E287* 1.000 superfamily_Immunoglobulin HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Immunoglobulin,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors CARD6 84674 genome.wustl.edu 36 5 40889494 40889494 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 40889494 40889494 C A SNP CARD6 NM_032587 human genbank 54_36p +1 reviewed missense c.2303 p.P768H 0.031 NULL superfamily_DEATH_like,HMMPfam_CARD - no_errors RRP7A 27341 genome.wustl.edu 36 22 41240147 41240147 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 22 41240147 41240147 G C SNP RRP7A NM_015703 human genbank 54_36p -1 provisional missense c.666 p.S222R 1.000 NULL superfamily_SSF54928,HMMSmart_RRM - no_errors CASK 8573 genome.wustl.edu 36 X 41531380 41531380 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 X 41531380 41531380 G T SNP CASK NM_003688 human genbank 54_36p -1 validated missense c.273 p.F91L 1.000 HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,superfamily_SSF101288,HMMSmart_L27,HMMPfam_L27,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin - no_errors TRAK1 22906 genome.wustl.edu 36 3 42240000 42240000 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 42240000 42240000 C A SNP TRAK1 NM_001042646 human genbank 54_36p +1 validated missense c.2629 p.P877T 1.000 NULL HMMPfam_HAP1_N,PatternScan_HEMOPEXIN - no_errors ERMAP 114625 genome.wustl.edu 36 1 43081357 43081357 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 43081357 43081357 C G SNP ERMAP NM_001017922 human genbank 54_36p +1 reviewed missense c.1295 p.A432G 0.012 NULL HMMSmart_IG,superfamily_SSF48726,HMMPfam_V-set,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors SLC12A5 57468 genome.wustl.edu 36 20 44111764 44111764 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 20 44111764 44111764 C T SNP SLC12A5 NM_020708 human genbank 54_36p +1 reviewed silent c.2109 p.G703 0.998 NULL HMMPfam_AA_permease - no_errors FLJ16165 390928 genome.wustl.edu 36 19 44281016 44281016 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 44281016 44281016 C T SNP FLJ16165 NM_001004318 human genbank 54_36p +1 provisional missense c.200 p.S67L 0.032 superfamily_Purple_Pase_N superfamily_Purple_Pase_N,superfamily_SSF56300,HMMPfam_Metallophos - no_errors CDC5L 988 genome.wustl.edu 36 6 44505578 44505578 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 6 44505578 44505578 C G SNP CDC5L NM_001253 human genbank 54_36p +1 reviewed missense c.2044 p.L682V 1.000 NULL superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors ANUBL1 93550 genome.wustl.edu 36 10 45433610 45433610 + Missense_Mutation SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 45433610 45433610 T G SNP ANUBL1 NM_174890 human genbank 54_36p -1 validated missense c.2032 p.S678R 1.000 HMMSmart_SM00154,HMMPfam_zf-AN1 HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,HMMSmart_SM00154,HMMPfam_zf-AN1 - no_errors SLC38A4 55089 genome.wustl.edu 36 12 45449393 45449393 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 45449393 45449393 G T SNP SLC38A4 NM_018018 human genbank 54_36p -1 validated missense c.1385 p.A462E 0.976 HMMPfam_Aa_trans HMMPfam_Aa_trans,PatternScan_RIBOSOMAL_L30 - no_errors CCR3 1232 genome.wustl.edu 36 3 46282533 46282533 + Missense_Mutation SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 46282533 46282533 T G SNP CCR3 NM_001837 human genbank 54_36p +1 reviewed missense c.880 p.C294G 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors GPR116 221395 genome.wustl.edu 36 6 46933923 46933923 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 6 46933923 46933923 G C SNP GPR116 NM_001098518 human genbank 54_36p -1 validated missense c.3676 p.P1226A 0.979 HMMPfam_7tm_2 PatternScan_EGF_2,superfamily_SEA domain,HMMPfam_SEA,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors CYP4B1 1580 genome.wustl.edu 36 1 47037454 47037454 + Silent SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 47037454 47037454 G T SNP CYP4B1 NM_001099772 human genbank 54_36p +1 reviewed silent c.114 p.T38 0.208 NULL superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors WDR13 64743 genome.wustl.edu 36 X 48348298 48348298 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 X 48348298 48348298 C T SNP WDR13 NM_017883 human genbank 54_36p +1 reviewed silent c.1392 p.D464 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors SBF1 6305 genome.wustl.edu 36 22 49250402 49250402 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 22 49250402 49250402 C A SNP SBF1 NM_002972 human genbank 54_36p -1 validated missense c.1226 p.G409V 0.513 HMMPfam_dDENN,HMMSmart_SM00801 HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMPfam_PH,HMMSmart_SM00233 - no_errors LOC646801 646801 genome.wustl.edu 36 11 50184018 50184018 + RNA SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 50184018 50184018 A G SNP LOC646801 XR_017320 human genbank 54_36p +1 model rna NULL NULL 0.999 - - - pseudogene SFRS16 11129 genome.wustl.edu 36 19 50263531 50263531 + Missense_Mutation SNP C G G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 50263531 50263531 C G SNP SFRS16 NM_007056 human genbank 54_36p +1 validated missense c.1721 p.P574R 0.991 NULL HMMPfam_DRY_EERY - no_errors NOVA2 4858 genome.wustl.edu 36 19 51135189 51135189 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 51135189 51135189 C T SNP NOVA2 NM_002516 human genbank 54_36p -1 validated silent c.1251 p.L417 1.000 HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1 HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1 - no_errors PFDN5 5204 genome.wustl.edu 36 12 51975653 51975653 + Missense_Mutation SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 51975653 51975653 T G SNP PFDN5 NM_002624 human genbank 54_36p +1 reviewed missense c.35 p.L12R 1.000 superfamily_Prefoldin superfamily_Prefoldin,HMMPfam_Prefoldin - no_errors PBRM1 55193 genome.wustl.edu 36 3 52598202 52598202 + Nonsense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 52598202 52598202 G C SNP PBRM1 NM_018165 human genbank 54_36p -1 validated nonsense c.2793 p.Y931* 0.994 HMMPfam_BAH,HMMSmart_BAH superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_BAH,HMMSmart_BAH,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors LNX1 84708 genome.wustl.edu 36 4 54039608 54039608 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 4 54039608 54039608 C G SNP LNX1 NM_032622 human genbank 54_36p -1 reviewed missense c.1256 p.G419A 0.575 superfamily_PDZ,HMMPfam_PDZ superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ - no_errors RUVBL2 10856 genome.wustl.edu 36 19 54206307 54206307 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 54206307 54206307 C T SNP RUVBL2 NM_006666 human genbank 54_36p +1 reviewed missense c.929 p.S310F 1.000 superfamily_SSF52540,HMMSmart_AAA,HMMPfam_TIP49 superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_TIP49 - no_errors LOC644745 644745 genome.wustl.edu 36 12 55192138 55192138 + RNA SNP T T A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 55192138 55192138 T A SNP LOC644745 XR_016744 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene PCSK9 255738 genome.wustl.edu 36 1 55284868 55284868 + Missense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 55284868 55284868 A T SNP PCSK9 NM_174936 human genbank 54_36p +1 reviewed missense c.484 p.T162S 0.440 superfamily_Subtilisin-like superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8 - no_errors OR5F1 338674 genome.wustl.edu 36 11 55518348 55518348 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 55518348 55518348 G A SNP OR5F1 NM_003697 human genbank 54_36p -1 provisional silent c.330 p.T110 0.002 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors NLRC5 84166 genome.wustl.edu 36 16 55649519 55649519 + Missense_Mutation SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 55649519 55649519 T G SNP NLRC5 NM_032206 human genbank 54_36p +1 validated missense c.3788 p.L1263R 0.674 superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368,HMMPfam_LRR_1 - no_errors OR8J3 81168 genome.wustl.edu 36 11 55661555 55661555 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 55661555 55661555 G A SNP OR8J3 NM_001004064 human genbank 54_36p -1 provisional silent c.216 p.G72 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR8H1 219469 genome.wustl.edu 36 11 55814187 55814187 + Missense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 55814187 55814187 A T SNP OR8H1 NM_001005199 human genbank 54_36p -1 provisional missense c.928 p.S310T 0.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LRP1 4035 genome.wustl.edu 36 12 55881175 55881175 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 55881175 55881175 C T SNP LRP1 NM_002332 human genbank 54_36p +1 validated silent c.10317 p.C3439 0.992 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_1 - no_errors SHANK1 50944 genome.wustl.edu 36 19 55897619 55897619 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 55897619 55897619 G A SNP SHANK1 NM_016148 human genbank 54_36p -1 validated missense c.1664 p.P555L 0.985 superfamily_SH3-domain superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors LOC440180 440180 genome.wustl.edu 36 14 56578080 56578080 + RNA SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 14 56578080 56578080 A C SNP LOC440180 XR_017569 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene DST 667 genome.wustl.edu 36 6 56589822 56589822 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 6 56589822 56589822 C T SNP DST NM_001723 human genbank 54_36p -1 reviewed silent c.6402 p.T2134 0.738 superfamily_SSF75399,HMMSmart_PLEC HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin - no_errors PRKAA2 5563 genome.wustl.edu 36 1 56932060 56932060 + Silent SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 56932060 56932060 G C SNP PRKAA2 NM_006252 human genbank 54_36p +1 validated silent c.510 p.L170 0.984 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors SLC38A7 55238 genome.wustl.edu 36 16 57268750 57268750 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 57268750 57268750 G C SNP SLC38A7 NM_018231 human genbank 54_36p -1 provisional missense c.691 p.P231A 0.958 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors POLR2B 5431 genome.wustl.edu 36 4 57567795 57567795 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 4 57567795 57567795 G A SNP POLR2B NM_000938 human genbank 54_36p +1 reviewed missense c.1274 p.R425Q 1.000 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7 - no_errors PDE4D 5144 genome.wustl.edu 36 5 58308888 58308888 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 58308888 58308888 C G SNP PDE4D NM_001104631 human genbank 54_36p -1 validated missense c.1594 p.E532Q 1.000 superfamily_HD-domain/PDEase-like,HMMPfam_PDEase_I superfamily_HD-domain/PDEase-like,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors C14orf135 64430 genome.wustl.edu 36 14 59661618 59661618 + Silent SNP T T A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 14 59661618 59661618 T A SNP C14orf135 NM_022495 human genbank 54_36p +1 validated silent c.2274 p.P758 0.592 NULL HMMPfam_Pecanex_C - no_errors ZNF549 256051 genome.wustl.edu 36 19 62741453 62741453 + Silent SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 19 62741453 62741453 G T SNP ZNF549 NM_153263 human genbank 54_36p +1 provisional silent c.1230 p.G410 0.982 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors RCOR2 283248 genome.wustl.edu 36 11 63438335 63438335 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 63438335 63438335 G A SNP RCOR2 NM_173587 human genbank 54_36p -1 provisional missense c.649 p.P217S 0.950 NULL HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors ADAMTS6 11174 genome.wustl.edu 36 5 64557751 64557751 + Missense_Mutation SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 64557751 64557751 T G SNP ADAMTS6 NM_197941 human genbank 54_36p -1 reviewed missense c.1985 p.Y662S 1.000 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors NPAS4 266743 genome.wustl.edu 36 11 65948232 65948232 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 65948232 65948232 G T SNP NPAS4 NM_178864 human genbank 54_36p +1 validated missense c.1295 p.G432V 1.000 NULL HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3 - no_errors ENSG00000218456 0 genome.wustl.edu 36 9 66194867 66194867 + Splice_Site SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 9 66194867 66194867 C T SNP ENSG00000218456 ENST00000405657 human ensembl 54_36p +1 known splice_site c.NULL NULL 0.000 - - - no_coding_region:pseudogene NDUFV1 4723 genome.wustl.edu 36 11 67133580 67133580 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 67133580 67133580 C G SNP NDUFV1 NM_007103 human genbank 54_36p +1 validated missense c.408 p.H136Q 1.000 HMMPfam_Complex1_51K HMMPfam_Complex1_51K,PatternScan_COMPLEX1_51K_1,HMMPfam_SLBB,HMMPfam_NADH_4Fe-4S,PatternScan_COMPLEX1_51K_2 - no_errors CTNNA3 29119 genome.wustl.edu 36 10 68196044 68196044 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 68196044 68196044 G A SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated missense c.1265 p.T422I 1.000 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin - no_errors PROKR1 10887 genome.wustl.edu 36 2 68735945 68735945 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 68735945 68735945 C T SNP PROKR1 NM_138964 human genbank 54_36p +1 validated silent c.915 p.I305 0.782 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors RAB37 326624 genome.wustl.edu 36 17 70237080 70237080 + Missense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 70237080 70237080 A T SNP RAB37 NM_175738 human genbank 54_36p +1 validated missense c.163 p.T55S 1.000 superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras - no_errors HIGD2B 123346 genome.wustl.edu 36 15 70755648 70755648 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 15 70755648 70755648 G A SNP HIGD2B ENST00000311755 human ensembl 54_36p -1 known missense c.121 p.R41C 1.000 HMMPfam_HIG_1_N HMMPfam_HIG_1_N - no_errors EVPL 2125 genome.wustl.edu 36 17 71529174 71529174 + Silent SNP G C C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 71529174 71529174 G C SNP EVPL NM_001988 human genbank 54_36p -1 validated silent c.981 p.T327 0.998 HMMSmart_SM00150,superfamily_Spectrin repeat superfamily_Spectrin repeat,HMMSmart_SM00150,HMMSmart_SM00250,superfamily_Prefoldin,superfamily_Plakin repeat,HMMPfam_Plectin - no_errors INPPL1 3636 genome.wustl.edu 36 11 71623247 71623247 + Silent SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 71623247 71623247 C G SNP INPPL1 NM_001567 human genbank 54_36p +1 reviewed silent c.2355 p.A785 0.996 NULL superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1 - no_errors PGM2L1 283209 genome.wustl.edu 36 11 73740089 73740089 + Missense_Mutation SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 73740089 73740089 T C SNP PGM2L1 NM_173582 human genbank 54_36p -1 validated missense c.736 p.I246V 1.000 superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_II superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase C-terminal domain - no_errors GTF2IRD2 84163 genome.wustl.edu 36 7 73874898 73874898 + Silent SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 73874898 73874898 A G SNP GTF2IRD2 NM_173537 human genbank 54_36p -1 validated silent c.564 p.S188 0.127 NULL HMMPfam_GTF2I - no_errors USP54 159195 genome.wustl.edu 36 10 74946836 74946836 + Silent SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 74946836 74946836 A G SNP USP54 NM_152586 human genbank 54_36p -1 provisional silent c.3354 p.Y1118 0.047 NULL superfamily_Cysteine proteinases,HMMPfam_UCH - no_errors TYW3 127253 genome.wustl.edu 36 1 75002288 75002288 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 75002288 75002288 G A SNP TYW3 NM_138467 human genbank 54_36p +1 provisional missense c.683 p.R228H 0.000 NULL HMMPfam_TYW3,superfamily_DUF207 - no_errors ADCK1 57143 genome.wustl.edu 36 14 77435301 77435301 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 14 77435301 77435301 G T SNP ADCK1 NM_020421 human genbank 54_36p +1 validated missense c.688 p.G230W 1.000 superfamily_Kinase_like,HMMPfam_ABC1 superfamily_Kinase_like,HMMPfam_ABC1 - no_errors ROBO2 6092 genome.wustl.edu 36 3 77682670 77682670 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 77682670 77682670 C A SNP ROBO2 NM_002942 human genbank 54_36p +1 reviewed missense c.1071 p.F357L 0.999 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors ODZ4 26011 genome.wustl.edu 36 11 78058751 78058751 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 78058751 78058751 G C SNP ODZ4 NM_001098816 human genbank 54_36p -1 validated missense c.4301 p.A1434G 1.000 NULL superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_TolB C-terminal domain,HMMPfam_NHL,HMMPfam_RHS_repeat - no_errors VPS13A 23230 genome.wustl.edu 36 9 79210716 79210716 + Missense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 9 79210716 79210716 A T SNP VPS13A NM_033305 human genbank 54_36p +1 reviewed missense c.9392 p.E3131V 1.000 NULL HMMPfam_DUF1162 - no_errors IL16 3603 genome.wustl.edu 36 15 79349021 79349021 + Missense_Mutation SNP G A A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 15 79349021 79349021 G A SNP IL16 NM_172217 human genbank 54_36p +1 reviewed missense c.652 p.V218M 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors C14orf145 145508 genome.wustl.edu 36 14 80321193 80321193 + Silent SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 14 80321193 80321193 T C SNP C14orf145 NM_152446 human genbank 54_36p -1 validated silent c.2010 p.A670 0.056 NULL NULL - no_errors ELMOD3 0 genome.wustl.edu 36 2 85437852 85437852 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 85437852 85437852 C G SNP ELMOD3 NM_032213 human genbank 54_36p +1 validated missense c.20 p.S7C 1.000 NULL HMMPfam_ELMO_CED12 - no_errors LRRCC1 85444 genome.wustl.edu 36 8 86234426 86234426 + Silent SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 8 86234426 86234426 T G SNP LRRCC1 NM_033402 human genbank 54_36p +1 validated silent c.2061 p.S687 1.000 NULL superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1 - no_errors RASA1 5921 genome.wustl.edu 36 5 86715299 86715299 + Missense_Mutation SNP C G G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 86715299 86715299 C G SNP RASA1 NM_002890 human genbank 54_36p +1 reviewed missense c.2704 p.L902V 1.000 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 - no_errors RMND5A 64795 genome.wustl.edu 36 2 86850710 86850710 + Missense_Mutation SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 86850710 86850710 T C SNP RMND5A NM_022780 human genbank 54_36p +1 validated missense c.908 p.I303T 0.999 NULL HMMSmart_SM00667,HMMSmart_SM00668,HMMSmart_SM00757,superfamily_RING/U-box - no_errors TUBB3 10381 genome.wustl.edu 36 16 88529494 88529494 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 88529494 88529494 C A SNP TUBB3 NM_006086 human genbank 54_36p +1 validated missense c.1134 p.F378L 1.000 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_errors GBP5 115362 genome.wustl.edu 36 1 89503125 89503125 + Silent SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 89503125 89503125 T C SNP GBP5 NM_052942 human genbank 54_36p -1 validated silent c.981 p.Q327 0.995 HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain - no_errors GBP6 163351 genome.wustl.edu 36 1 89606752 89606752 + Missense_Mutation SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 89606752 89606752 T G SNP GBP6 NM_198460 human genbank 54_36p +1 validated missense c.54 p.N18K 0.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain - no_errors PTEN 5728 genome.wustl.edu 36 10 89682863 89682863 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 89682863 89682863 C T SNP PTEN NM_000314 human genbank 54_36p +1 reviewed missense c.367 p.H123Y 1.000 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors ZNF644 84146 genome.wustl.edu 36 1 91176546 91176546 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 91176546 91176546 G T SNP ZNF644 NM_201269 human genbank 54_36p -1 validated missense c.2953 p.H985N 1.000 HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SERPINA2 390502 genome.wustl.edu 36 14 93902280 93902280 + Missense_Mutation SNP G A A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 14 93902280 93902280 G A SNP SERPINA2 ENST00000238576 human ensembl 54_36p -1 known missense c.500 p.S167F 0.003 superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093 superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093 - no_start_codon TEKT4 150483 genome.wustl.edu 36 2 94901418 94901418 + Nonsense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 94901418 94901418 A T SNP TEKT4 NM_144705 human genbank 54_36p +1 provisional nonsense c.367 p.K123* 0.997 HMMPfam_Tektin HMMPfam_Tektin - no_errors LOC285033 285033 genome.wustl.edu 36 2 96270021 96270021 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 96270021 96270021 C G SNP LOC285033 NM_001037228 human genbank 54_36p +1 predicted missense c.233 p.P78R 0.003 NULL NULL - no_errors TMEM127 55654 genome.wustl.edu 36 2 96283353 96283353 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 96283353 96283353 C G SNP TMEM127 NM_017849 human genbank 54_36p -1 provisional missense c.637 p.E213Q 0.994 NULL NULL - no_errors FAHD2B 151313 genome.wustl.edu 36 2 97113676 97113676 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 97113676 97113676 G T SNP FAHD2B NM_199336 human genbank 54_36p -1 provisional missense c.751 p.Q251K 1.000 superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase - no_errors SLIT1 6585 genome.wustl.edu 36 10 98814579 98814579 + Missense_Mutation SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 98814579 98814579 A C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.530 p.F177C 1.000 superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369 HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors LOC100127982 0 genome.wustl.edu 36 8 98934868 98934868 + RNA SNP A G G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 8 98934868 98934868 A G SNP LOC100127982 XR_039024 human genbank 54_36p -1 model rna NULL NULL 0.923 - - - pseudogene CNTN5 53942 genome.wustl.edu 36 11 99221196 99221196 + Missense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 99221196 99221196 A T SNP CNTN5 NM_014361 human genbank 54_36p +1 reviewed missense c.569 p.Q190L 1.000 HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409 HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_V-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors TSPAN5 10098 genome.wustl.edu 36 4 99618970 99618970 + Silent SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 4 99618970 99618970 C G SNP TSPAN5 NM_005723 human genbank 54_36p -1 reviewed silent c.465 p.G155 1.000 HMMPfam_Tetraspannin,superfamily_Tetraspanin HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin - no_errors AFF3 3899 genome.wustl.edu 36 2 99991822 99991822 + Missense_Mutation SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 99991822 99991822 A G SNP AFF3 NM_001025108 human genbank 54_36p -1 reviewed missense c.133 p.Y45H 1.000 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors MUC17 140453 genome.wustl.edu 36 7 100472877 100472877 + Silent SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 100472877 100472877 C A SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional silent c.11460 p.L3820 0.049 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors TGFBR1 7046 genome.wustl.edu 36 9 100940037 100940037 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 9 100940037 100940037 G C SNP TGFBR1 NM_004612 human genbank 54_36p +1 reviewed missense c.650 p.G217A 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Snake toxin-like,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ZPLD1 131368 genome.wustl.edu 36 3 103679033 103679033 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 103679033 103679033 G A SNP ZPLD1 NM_175056 human genbank 54_36p +1 provisional missense c.1177 p.G393R 1.000 NULL HMMPfam_Zona_pellucida,HMMSmart_ZP - no_errors ALKBH8 91801 genome.wustl.edu 36 11 106929120 106929120 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 106929120 106929120 G T SNP ALKBH8 NM_138775 human genbank 54_36p -1 validated missense c.519 p.H173Q 1.000 NULL HMMPfam_DUF1891,PatternScan_RIBOSOMAL_L23 - no_errors TRPV4 59341 genome.wustl.edu 36 12 108718771 108718771 + Missense_Mutation SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 108718771 108718771 T C SNP TRPV4 NM_021625 human genbank 54_36p -1 reviewed missense c.1274 p.D425G 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans - no_errors EBAG9 9166 genome.wustl.edu 36 8 110642273 110642273 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 8 110642273 110642273 G T SNP EBAG9 NM_004215 human genbank 54_36p +1 reviewed nonsense c.460 p.E154* 1.000 NULL NULL - no_errors STARD4 134429 genome.wustl.edu 36 5 110863678 110863678 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 110863678 110863678 C A SNP STARD4 NM_139164 human genbank 54_36p -1 provisional missense c.423 p.K141N 0.947 superfamily_SSF55961,HMMPfam_START superfamily_SSF55961,HMMPfam_START - no_errors SLC9A10 285335 genome.wustl.edu 36 3 113467822 113467822 + Missense_Mutation SNP T T G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 113467822 113467822 T G SNP SLC9A10 NM_183061 human genbank 54_36p -1 validated missense c.831 p.L277F 1.000 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,PatternScan_WD_REPEATS_1,superfamily_cAMP-binding domain-like,HMMPfam_cNMP_binding - no_errors KPNA5 3841 genome.wustl.edu 36 6 117153660 117153660 + Silent SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 6 117153660 117153660 A C SNP KPNA5 NM_002269 human genbank 54_36p +1 reviewed silent c.1053 p.P351 0.997 superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors GPRC6A 222545 genome.wustl.edu 36 6 117220570 117220570 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 6 117220570 117220570 G T SNP GPRC6A NM_148963 human genbank 54_36p -1 validated missense c.2209 p.P737T 0.954 HMMPfam_7tm_3 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3 - no_errors BCL9L 283149 genome.wustl.edu 36 11 118277580 118277580 + Silent SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 118277580 118277580 G C SNP BCL9L NM_182557 human genbank 54_36p -1 validated silent c.2082 p.P694 0.087 NULL PatternScan_RIBOSOMAL_S6E - no_errors USP2 9099 genome.wustl.edu 36 11 118733510 118733510 + Missense_Mutation SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 118733510 118733510 T C SNP USP2 NM_004205 human genbank 54_36p -1 validated missense c.1502 p.H501R 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors HNF1A 6927 genome.wustl.edu 36 12 119918503 119918503 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 119918503 119918503 C T SNP HNF1A NM_000545 human genbank 54_36p +1 reviewed silent c.1011 p.S337 0.095 HMMPfam_HNF-1B_C superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C,HMMPfam_HNF-1A_C - no_errors PUS3 83480 genome.wustl.edu 36 11 125271012 125271012 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 11 125271012 125271012 C G SNP PUS3 NM_031307 human genbank 54_36p -1 validated missense c.378 p.Q126H 1.000 superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_1 superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_1 - no_errors RBM28 55131 genome.wustl.edu 36 7 127753140 127753140 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 127753140 127753140 C G SNP RBM28 NM_018077 human genbank 54_36p -1 validated missense c.1170 p.Q390H 1.000 superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1 - no_errors KCNQ3 3786 genome.wustl.edu 36 8 133257032 133257032 + Silent SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 8 133257032 133257032 G C SNP KCNQ3 NM_004519 human genbank 54_36p -1 reviewed silent c.783 p.L261 1.000 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel - no_errors SARDH 1757 genome.wustl.edu 36 9 135551299 135551299 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 9 135551299 135551299 C G SNP SARDH NM_007101 human genbank 54_36p -1 reviewed missense c.1674 p.K558N 0.983 superfamily_SSF103025 superfamily_SSF51905,HMMPfam_DAO,superfamily_SSF54373,superfamily_SSF103025,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_SSF101790 - no_errors LOC442727 442727 genome.wustl.edu 36 7 137739593 137739593 + RNA SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 137739593 137739593 C T SNP LOC442727 XR_017503 human genbank 54_36p -1 model rna NULL NULL 0.987 - - - pseudogene LOC442727 442727 genome.wustl.edu 36 7 137739737 137739737 + RNA SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 137739737 137739737 C A SNP LOC442727 XR_017503 human genbank 54_36p -1 model rna NULL NULL 0.998 - - - pseudogene PCDHGC3 5098 genome.wustl.edu 36 5 140837383 140837383 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 140837383 140837383 G C SNP PCDHGC3 NM_002588 human genbank 54_36p +1 reviewed missense c.1516 p.V506L 0.990 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors MAGEC2 51438 genome.wustl.edu 36 X 141119063 141119063 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 X 141119063 141119063 G C SNP MAGEC2 NM_016249 human genbank 54_36p -1 reviewed missense c.377 p.T126S 0.000 NULL HMMPfam_MAGE - no_errors PTK2 5747 genome.wustl.edu 36 8 141831267 141831267 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 8 141831267 141831267 G T SNP PTK2 ENST00000395214 human ensembl 54_36p -1 known nonsense c.861 p.C287* 0.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc superfamily_FERM_3-hlx,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_FERM_2,HMMPfam_Focal_AT,superfamily_Focal_AT - no_errors PLSCR1 5359 genome.wustl.edu 36 3 147733974 147733974 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 147733974 147733974 G C SNP PLSCR1 NM_021105 human genbank 54_36p -1 validated missense c.67 p.P23A 0.004 NULL HMMPfam_Scramblase - no_errors SSPO 23145 genome.wustl.edu 36 7 149150195 149150195 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 149150195 149150195 G T SNP SSPO ENST00000378016 human ensembl 54_36p +1 known missense c.55 p.G19C 0.998 NULL superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_Cysrich_TIL,PatternScan_GLYCO_HORMONE_BETA_1 - no_errors PI4KB 5298 genome.wustl.edu 36 1 149545450 149545450 + Missense_Mutation SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 149545450 149545450 A C SNP PI4KB NM_002651 human genbank 54_36p -1 provisional missense c.1232 p.I411S 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors ABP1 26 genome.wustl.edu 36 7 150186891 150186891 + Missense_Mutation SNP T T A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 150186891 150186891 T A SNP ABP1 NM_001091 human genbank 54_36p +1 reviewed missense c.1678 p.S560T 0.000 superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid superfamily_Amine oxidase N-terminal region,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2 - no_errors ZBTB7B 51043 genome.wustl.edu 36 1 153254296 153254296 + Missense_Mutation SNP A A G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 153254296 153254296 A G SNP ZBTB7B NM_015872 human genbank 54_36p +1 validated missense c.536 p.D179G 0.917 NULL superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2 - no_errors ARHGEF2 9181 genome.wustl.edu 36 1 154198545 154198545 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 154198545 154198545 G A SNP ARHGEF2 NM_004723 human genbank 54_36p -1 reviewed silent c.1110 p.I370 0.426 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325 superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,HMMPfam_PH,superfamily_PH domain-like,HMMSmart_SM00233 - no_errors UBE3C 9690 genome.wustl.edu 36 7 156708716 156708716 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 7 156708716 156708716 G C SNP UBE3C NM_014671 human genbank 54_36p +1 validated missense c.2010 p.L670F 0.998 NULL HMMSmart_SM00015,HMMPfam_IQ,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors GMPS 8833 genome.wustl.edu 36 3 157106644 157106644 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 157106644 157106644 G T SNP GMPS NM_003875 human genbank 54_36p +1 reviewed missense c.424 p.G142C 1.000 superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_ExsB,HMMPfam_GMP_synt_C,superfamily_GMP synthetase C-terminal dimerisation domain - no_errors AIM2 9447 genome.wustl.edu 36 1 157299956 157299956 + Missense_Mutation SNP G G T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 157299956 157299956 G T SNP AIM2 NM_004833 human genbank 54_36p -1 reviewed missense c.949 p.L317M 0.009 HMMPfam_HIN superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN - no_errors ACVR1 90 genome.wustl.edu 36 2 158342921 158342921 + Missense_Mutation SNP T T A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 158342921 158342921 T A SNP ACVR1 NM_001105 human genbank 54_36p -1 reviewed missense c.511 p.I171F 1.000 NULL HMMPfam_Activin_recp,superfamily_SSF57302,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ATP1A4 480 genome.wustl.edu 36 1 158418174 158418174 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 158418174 158418174 C T SNP ATP1A4 NM_144699 human genbank 54_36p +1 reviewed missense c.2813 p.A938V 0.992 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_C HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors VEPH1 79674 genome.wustl.edu 36 3 158461746 158461746 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 158461746 158461746 G A SNP VEPH1 NM_024621 human genbank 54_36p -1 provisional silent c.2373 p.F791 1.000 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors IFT80 57560 genome.wustl.edu 36 3 161479771 161479771 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 161479771 161479771 C T SNP IFT80 NM_020800 human genbank 54_36p -1 validated silent c.1740 p.L580 0.998 NULL superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,superfamily_Cyt_cd1_haem_C - no_errors ODZ2 57451 genome.wustl.edu 36 5 167407052 167407052 + Missense_Mutation SNP A G G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 5 167407052 167407052 A G SNP ODZ2 ENST00000388903 human ensembl 54_36p +1 known missense c.1229 p.D410G 1.000 NULL HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat - no_errors SLC9A11 284525 genome.wustl.edu 36 1 171812474 171812474 + Missense_Mutation SNP A A C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 171812474 171812474 A C SNP SLC9A11 NM_178527 human genbank 54_36p -1 validated missense c.851 p.L284R 0.994 HMMPfam_Na_H_Exchanger PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Na_H_Exchanger,HMMPfam_Ion_trans,HMMSmart_cNMP,superfamily_cNMP_binding,HMMPfam_cNMP_binding - no_errors PLD1 5337 genome.wustl.edu 36 3 172877216 172877216 + Missense_Mutation SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 172877216 172877216 G C SNP PLD1 NM_002662 human genbank 54_36p -1 validated missense c.2098 p.R700G 1.000 superfamily_Phospholipase D/nuclease HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155 - no_errors TTN 7273 genome.wustl.edu 36 2 179302635 179302635 + Splice_Site SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 179302635 179302635 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known splice_site c.14857+1 e59+1 1.000 - - - no_errors CACNA1E 777 genome.wustl.edu 36 1 180011928 180011928 + Silent SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 180011928 180011928 G C SNP CACNA1E NM_000721 human genbank 54_36p +1 reviewed silent c.5208 p.L1736 1.000 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors STOX2 56977 genome.wustl.edu 36 4 185169019 185169019 + Silent SNP A C C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 4 185169019 185169019 A C SNP STOX2 NM_020225 human genbank 54_36p +1 provisional silent c.2034 p.G678 0.810 NULL HMMPfam_Stork_head - no_errors EIF2B5 8893 genome.wustl.edu 36 3 185342721 185342721 + Silent SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 3 185342721 185342721 G C SNP EIF2B5 NM_003907 human genbank 54_36p +1 validated silent c.1305 p.V435 1.000 superfamily_Trimer_LpxA_like,HMMPfam_Hexapep superfamily_SSF53448,superfamily_Trimer_LpxA_like,HMMPfam_Hexapep,superfamily_ARM-type_fold,HMMSmart_eIF5C,HMMPfam_W2 - no_errors ZSWIM2 151112 genome.wustl.edu 36 2 187406118 187406118 + Missense_Mutation SNP C C G novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 187406118 187406118 C G SNP ZSWIM2 NM_182521 human genbank 54_36p -1 validated missense c.915 p.K305N 0.730 NULL HMMPfam_SWIM,superfamily_SSF57850,HMMSmart_RING,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_zf-C3HC4 - no_errors LOC344328 344328 genome.wustl.edu 36 2 188399228 188399228 + RNA SNP G G C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 188399228 188399228 G C SNP LOC344328 XR_017370 human genbank 54_36p +1 model rna NULL NULL 0.994 - - - pseudogene MYO1B 4430 genome.wustl.edu 36 2 191936816 191936816 + Missense_Mutation SNP C C A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 191936816 191936816 C A SNP MYO1B NM_012223 human genbank 54_36p +1 validated missense c.883 p.L295I 0.178 HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_TH1 - no_errors DNAH7 56171 genome.wustl.edu 36 2 196407195 196407195 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 196407195 196407195 C T SNP DNAH7 NM_018897 human genbank 54_36p -1 validated missense c.9080 p.C3027Y 1.000 NULL HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT - no_errors IRF6 3664 genome.wustl.edu 36 1 208036385 208036385 + Missense_Mutation SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 208036385 208036385 G A SNP IRF6 NM_006147 human genbank 54_36p -1 reviewed missense c.310 p.P104S 1.000 HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785 HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3 - no_errors CENPF 1063 genome.wustl.edu 36 1 212880489 212880489 + Missense_Mutation SNP A A T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 212880489 212880489 A T SNP CENPF NM_016343 human genbank 54_36p +1 reviewed missense c.2185 p.T729S 0.004 NULL HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F - no_errors IL8RB 3579 genome.wustl.edu 36 2 218708533 218708533 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 218708533 218708533 C T SNP IL8RB NM_001557 human genbank 54_36p +1 reviewed missense c.764 p.A255V 0.311 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SLC11A1 6556 genome.wustl.edu 36 2 218955980 218955980 + Missense_Mutation SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 218955980 218955980 C T SNP SLC11A1 NM_000578 human genbank 54_36p +1 reviewed missense c.61 p.P21S 0.956 NULL HMMPfam_Nramp - no_errors NUP133 55746 genome.wustl.edu 36 1 227688813 227688813 + Silent SNP C C T novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 227688813 227688813 C T SNP NUP133 NM_018230 human genbank 54_36p -1 reviewed silent c.1428 p.R476 0.997 HMMPfam_Nup133_N HMMPfam_Nup133_N,HMMPfam_Nup133 - no_errors SLC35F3 148641 genome.wustl.edu 36 1 232433820 232433820 + Silent SNP G G A novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 232433820 232433820 G A SNP SLC35F3 NM_173508 human genbank 54_36p +1 provisional silent c.318 p.A106 0.949 NULL superfamily_SSF103481,HMMPfam_DUF6 - no_errors LYST 1130 genome.wustl.edu 36 1 233996196 233996196 + Missense_Mutation SNP T T C novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 1 233996196 233996196 T C SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.5927 p.Y1976C 1.000 NULL PatternScan_COPPER_BLUE,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors CREBBP 1387 genome.wustl.edu 36 16 3735269 3735282 + Splice_Site DEL AACAACTCACCCTG AACAACTCACCCTG - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 AACAACTCACCCTG AACAACTCACCCTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 3735269 3735282 AACAACTCACCCTG - DEL CREBBP NM_004380 human genbank 54_36p -1 reviewed splice_site_del c.3914+5_3914+1 e23-1 0.159:0.074:0.007:0.005:0.512:0.998:0.999:0.999:1.000:1.000:1.000:1.000:0.992:1.000 - - (deletion:intron[3734964,3735278], cds_exon[3735279,3735356]) no_errors APOB 338 genome.wustl.edu 36 2 21117369 21117380 + In_Frame_Del DEL TTGCCCTCAGGG TTGCCCTCAGGG - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 TTGCCCTCAGGG TTGCCCTCAGGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 21117369 21117380 TTGCCCTCAGGG - DEL APOB NM_000384 human genbank 54_36p -1 reviewed in_frame_del c.329_318 p.NPEG106in_frame_del 0.880:0.874:0.869:0.975:0.973:0.675:0.650:0.618:0.104:0.124:0.134:0.509 superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638 superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 (deletion:cds_exon[21117315,21117460]) no_errors CYTH4 27128 genome.wustl.edu 36 22 36029287 36029292 + In_Frame_Del DEL CCTCCA CCTCCA - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 CCTCCA CCTCCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 22 36029287 36029292 CCTCCA - DEL CYTH4 NM_013385 human genbank 54_36p +1 reviewed in_frame_del c.594_599 p.LH199in_frame_del 1.000:1.000:1.000:0.996:1.000:1.000 superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7 superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH (deletion:cds_exon[36029241,36029389]) no_errors COL1A1 1277 genome.wustl.edu 36 17 45628314 45628331 + In_Frame_Del DEL GGACCAGCGGGGCCGGTG GGACCAGCGGGGCCGGTG - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 GGACCAGCGGGGCCGGTG GGACCAGCGGGGCCGGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 45628314 45628331 GGACCAGCGGGGCCGGTG - DEL COL1A1 NM_000088 human genbank 54_36p -1 reviewed in_frame_del c.1025_1008 p.TGPAGP337in_frame_del 1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.991:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_Collagen HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI (deletion:cds_exon[45628283,45628336]) no_errors PCNT 5116 genome.wustl.edu 36 21 46570739 46570740 + Frame_Shift_Ins INS - - AAAC novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 21 46570739 46570740 - AAAC INS PCNT NM_006031 human genbank 54_36p +1 reviewed frame_shift_ins c.75_76 p.T26fs 1.000:1.000 NULL HMMPfam_PACT_coil_coil - no_errors LOC100129674 0 genome.wustl.edu 36 17 60177315 60177332 + In_Frame_Del DEL GCCCAGATGGTCACCCAA GCCCAGATGGTCACCCAA - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 GCCCAGATGGTCACCCAA GCCCAGATGGTCACCCAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 17 60177315 60177332 GCCCAGATGGTCACCCAA - DEL LOC100129674 XM_001726853 human genbank 54_36p -1 model in_frame_del c.119_102 p.WVTIWA35in_frame_del 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL (deletion:cds_exon[60177174,60177433]) no_errors NOX5 79400 genome.wustl.edu 36 15 67114750 67114760 + Frame_Shift_Del DEL GCTGATGCTCA GCTGATGCTCA - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 GCTGATGCTCA GCTGATGCTCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 15 67114750 67114760 GCTGATGCTCA - DEL NOX5 NM_024505 human genbank 54_36p +1 provisional frame_shift_del c.804_814 p.L269fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_Ferric_reduct superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_Ferric_reduct,superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_8,superfamily_SSF52343,HMMPfam_NAD_binding_6 (deletion:cds_exon[67114748,67114901]) no_errors NQO1 1728 genome.wustl.edu 36 16 68309824 68309838 + In_Frame_Del DEL TCCGACTCCACCACC TCCGACTCCACCACC - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 TCCGACTCCACCACC TCCGACTCCACCACC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 16 68309824 68309838 TCCGACTCCACCACC - DEL NQO1 NM_000903 human genbank 54_36p -1 reviewed in_frame_del c.122_108 p.EVVES36in_frame_del 1.000:0.998:0.502:0.986:0.983:0.127:0.060:0.063:0.000:0.001:0.001:0.045:0.993:0.997:0.960 HMMPfam_Flavodoxin_2,superfamily_Flavoproteins HMMPfam_Flavodoxin_2,superfamily_Flavoproteins (deletion:cds_exon[68309774,68309938]) no_errors KIAA0913 23053 genome.wustl.edu 36 10 75229902 75229910 + In_Frame_Del DEL AGCCAGGGC AGCCAGGGC - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 AGCCAGGGC AGCCAGGGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 10 75229902 75229910 AGCCAGGGC - DEL KIAA0913 NM_015037 human genbank 54_36p +1 validated in_frame_del c.4793_4801 p.EPGL1598in_frame_delV 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000 NULL HMMPfam_SWIM (deletion:cds_exon[75229775,75229958]) no_errors C12orf30 80018 genome.wustl.edu 36 12 110955507 110955517 + Frame_Shift_Del DEL ATTGGAAATTA ATTGGAAATTA - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 ATTGGAAATTA ATTGGAAATTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 12 110955507 110955517 ATTGGAAATTA - DEL C12orf30 NM_024953 human genbank 54_36p -1 validated frame_shift_del c.2709_2699 p.L900fs 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.998 NULL superfamily_TPR-like,HMMPfam_NatB_MDM20 (deletion:cds_exon[110955420,110955566]) no_errors TTN 7273 genome.wustl.edu 36 2 179104070 179104082 + Frame_Shift_Del DEL GCAGAAGTACTTA GCAGAAGTACTTA - novel unknown TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 GCAGAAGTACTTA GCAGAAGTACTTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0ad81b61-20fc-40d7-b0ad-6ea6bf305d82 5aa6d080-c4d6-4548-925f-dc1bbd21bbb4 2 179104070 179104082 GCAGAAGTACTTA - DEL TTN ENST00000375038 human ensembl 54_36p -1 known frame_shift_del c.93461_93449 p.L31150fs 0.998:0.999:0.996:1.000:0.999:0.856:0.888:0.809:0.013:0.006:0.002:0.001:0.423 superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR (deletion:cds_exon[179103214,179108822]) no_errors