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 ATAD3C 219293 genome.wustl.edu 36 1 1381129 1381129 + Silent SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 1381129 1381129 A G SNP ATAD3C ENST00000378774 human ensembl 54_36p +1 known silent c.534 p.P178 0.966 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA - no_errors KIAA0020 9933 genome.wustl.edu 36 9 2818779 2818779 + Splice_Site SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 9 2818779 2818779 C A SNP KIAA0020 NM_014878 human genbank 54_36p -1 validated splice_site c.853-1 e8-1 1.000 - - - no_errors LONP1 9361 genome.wustl.edu 36 19 5664214 5664214 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 5664214 5664214 G A SNP LONP1 NM_004793 human genbank 54_36p -1 reviewed missense c.569 p.T190M 0.998 HMMPfam_LON,HMMSmart_LON HMMPfam_LON,HMMSmart_LON,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_Lon_C,superfamily_Ribosomal_S5_D2-typ_fold,PatternScan_LON_SER - no_errors TBC1D14 57533 genome.wustl.edu 36 4 7020005 7020005 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 4 7020005 7020005 G A SNP TBC1D14 NM_020773 human genbank 54_36p +1 validated missense c.751 p.A251T 0.624 NULL superfamily_Ypt/Rab-GAP domain of gyp1p,HMMSmart_SM00164,HMMPfam_TBC - no_errors TP53 7157 genome.wustl.edu 36 17 7519129 7519129 + Missense_Mutation SNP A T T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 17 7519129 7519129 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.526 p.C176S 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 PLCB1 23236 genome.wustl.edu 36 20 8730734 8730734 + Missense_Mutation SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 20 8730734 8730734 C G SNP PLCB1 NM_182734 human genbank 54_36p +1 reviewed missense c.3455 p.T1152S 1.000 HMMPfam_PLC-beta_C superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C - no_errors A2ML1 144568 genome.wustl.edu 36 12 8913026 8913026 + Missense_Mutation SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 8913026 8913026 T C SNP A2ML1 NM_144670 human genbank 54_36p +1 validated missense c.4181 p.V1394A 0.999 superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep - no_errors KLRG1 10219 genome.wustl.edu 36 12 9052875 9052875 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 9052875 9052875 G T SNP KLRG1 NM_005810 human genbank 54_36p +1 reviewed missense c.395 p.W132L 0.852 superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C - no_errors MYH8 4626 genome.wustl.edu 36 17 10234537 10234537 + Missense_Mutation SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 17 10234537 10234537 C G SNP MYH8 NM_002472 human genbank 54_36p -1 validated missense c.5773 p.V1925L 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors ATP2B2 491 genome.wustl.edu 36 3 10392120 10392120 + Silent SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 10392120 10392120 C T SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed silent c.1410 p.S470 0.704 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors IMPA2 3613 genome.wustl.edu 36 18 12018084 12018084 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 18 12018084 12018084 G T SNP IMPA2 NM_014214 human genbank 54_36p +1 validated missense c.533 p.R178L 0.890 HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase,PatternScan_IMP_1,PatternScan_IMP_2 - no_errors HOOK2 29911 genome.wustl.edu 36 19 12742807 12742807 + Nonsense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 12742807 12742807 G A SNP HOOK2 NM_013312 human genbank 54_36p -1 validated nonsense c.841 p.Q281* 1.000 HMMPfam_HOOK HMMPfam_HOOK - no_errors PRAMEF12 390999 genome.wustl.edu 36 1 12757623 12757623 + Missense_Mutation SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 12757623 12757623 T A SNP PRAMEF12 NM_001080830 human genbank 54_36p +1 provisional missense c.26 p.L9H 0.197 NULL superfamily_SSF52047 - no_errors ZNF834 0 genome.wustl.edu 36 21 13391612 13391612 + Nonsense_Mutation SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 21 13391612 13391612 T A SNP ZNF834 ENST00000305570 human ensembl 54_36p -1 known nonsense c.232 p.K78* 0.023 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 LOC729057 729057 genome.wustl.edu 36 22 14503793 14503793 + RNA SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 22 14503793 14503793 G A SNP LOC729057 XR_042044 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - no_errors OR7A2P 0 genome.wustl.edu 36 19 14836330 14836330 + Silent SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 14836330 14836330 C G SNP OR7A2P ENST00000304105 human ensembl 54_36p -1 known silent c.198 p.L66 0.005 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_start_codon PIK3R2 5296 genome.wustl.edu 36 19 18134867 18134867 + Silent SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 18134867 18134867 C T SNP PIK3R2 NM_005027 human genbank 54_36p +1 validated silent c.1200 p.D400 0.833 superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors NAT2 10 genome.wustl.edu 36 8 18302220 18302220 + Nonsense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 8 18302220 18302220 C T SNP NAT2 NM_000015 human genbank 54_36p +1 reviewed nonsense c.427 p.Q143* 1.000 superfamily_SSF54001,HMMPfam_Acetyltransf_2 superfamily_SSF54001,HMMPfam_Acetyltransf_2 - no_errors GJA3 2700 genome.wustl.edu 36 13 19615150 19615150 + Missense_Mutation SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 13 19615150 19615150 A G SNP GJA3 NM_021954 human genbank 54_36p -1 validated missense c.278 p.L93P 1.000 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors OR4K17 390436 genome.wustl.edu 36 14 19656235 19656235 + Missense_Mutation SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 14 19656235 19656235 T C SNP OR4K17 NM_001004715 human genbank 54_36p +1 provisional missense c.830 p.V277A 0.250 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 RPGRIP1 57096 genome.wustl.edu 36 14 20832807 20832807 + Missense_Mutation SNP A A T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 14 20832807 20832807 A T SNP RPGRIP1 NM_020366 human genbank 54_36p +1 reviewed missense c.217 p.R73W 1.000 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 - no_errors ENSG00000211685 0 genome.wustl.edu 36 22 21594888 21594888 + Silent SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 22 21594888 21594888 T A SNP ENSG00000211685 ENST00000390331 human ensembl 54_36p +1 known silent c.123 p.P41 0.998 superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407 superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCC9 10060 genome.wustl.edu 36 12 21860030 21860030 + Silent SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 21860030 21860030 G A SNP ABCC9 NM_005691 human genbank 54_36p -1 reviewed silent c.3957 p.V1319 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors PRDM9 56979 genome.wustl.edu 36 5 23545387 23545387 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 23545387 23545387 G A SNP PRDM9 NM_020227 human genbank 54_36p +1 provisional missense c.121 p.A41T 0.713 superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_KRAB superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_KRAB,HMMPfam_SSXRD,superfamily_SSF82199,HMMSmart_SET,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2 - no_errors PRKCB 5579 genome.wustl.edu 36 16 24109912 24109912 + Silent SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 16 24109912 24109912 C T SNP PRKCB NM_002738 human genbank 54_36p +1 reviewed silent c.1723 p.L575 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors PDK3 5165 genome.wustl.edu 36 X 24456122 24456122 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 24456122 24456122 C A SNP PDK3 NM_005391 human genbank 54_36p +1 validated missense c.861 p.D287E 0.991 superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c superfamily_SSF69012,HMMPfam_BCDHK_Adom3,superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c - no_errors CCL11 6356 genome.wustl.edu 36 17 29637003 29637003 + Silent SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 17 29637003 29637003 G T SNP CCL11 NM_002986 human genbank 54_36p +1 reviewed silent c.63 p.G21 0.032 NULL superfamily_Interleukin 8-like chemokines,HMMPfam_IL8,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CC - no_errors GABBR1 2550 genome.wustl.edu 36 6 29686750 29686750 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 6 29686750 29686750 G C SNP GABBR1 NM_001470 human genbank 54_36p -1 reviewed missense c.1638 p.S546R 0.998 superfamily_Periplasmic binding protein-like I superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_7tm_3 - no_errors GRIK1 2897 genome.wustl.edu 36 21 29855911 29855911 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 21 29855911 29855911 G T SNP GRIK1 NM_000830 human genbank 54_36p -1 reviewed missense c.2261 p.S754Y 1.000 HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors HEATR5A 25938 genome.wustl.edu 36 14 30882966 30882966 + Missense_Mutation SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 14 30882966 30882966 T A SNP HEATR5A NM_015473 human genbank 54_36p -1 validated missense c.2236 p.M746L 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors FRY 10129 genome.wustl.edu 36 13 31647719 31647719 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 13 31647719 31647719 C A SNP FRY NM_023037 human genbank 54_36p +1 validated missense c.2371 p.L791I 1.000 NULL PatternScan_GHMP_KINASES_ATP - no_errors CCDC129 223075 genome.wustl.edu 36 7 31649438 31649438 + Silent SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 31649438 31649438 C T SNP CCDC129 NM_194300 human genbank 54_36p +1 validated silent c.1929 p.I643 0.001 NULL PatternScan_PA2_HIS - no_errors SON 6651 genome.wustl.edu 36 21 33844235 33844235 + Silent SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 21 33844235 33844235 G T SNP SON NM_138927 human genbank 54_36p +1 reviewed silent c.828 p.L276 1.000 NULL HMMSmart_SM00443,HMMPfam_G-patch,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm - no_errors LOC728257 728257 genome.wustl.edu 36 15 34697618 34697618 + RNA SNP T T G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 15 34697618 34697618 T G SNP LOC728257 XR_015358 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene RAPGEFL1 51195 genome.wustl.edu 36 17 35601437 35601437 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 17 35601437 35601437 G C SNP RAPGEFL1 NM_016339 human genbank 54_36p +1 validated missense c.974 p.R325P 0.971 superfamily_Ras_GEF,HMMSmart_RasGEF,HMMPfam_RasGEF superfamily_Ras_GEF,HMMPfam_RA,HMMSmart_RasGEF,HMMPfam_RasGEF - no_errors MIPOL1 145282 genome.wustl.edu 36 14 36824386 36824386 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 14 36824386 36824386 G A SNP MIPOL1 NM_138731 human genbank 54_36p +1 validated missense c.606 p.M202I 0.995 NULL NULL - no_errors GOLGA4 2803 genome.wustl.edu 36 3 37342304 37342304 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 37342304 37342304 G C SNP GOLGA4 NM_002078 human genbank 54_36p +1 reviewed missense c.3923 p.S1308T 0.996 NULL superfamily_Prefoldin,PatternScan_PHOSPHOPANTETHEINE,HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain - no_errors COASY 80347 genome.wustl.edu 36 17 37970581 37970581 + Missense_Mutation SNP T T G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 17 37970581 37970581 T G SNP COASY NM_001042529 human genbank 54_36p +1 validated missense c.1292 p.F431C 1.000 HMMPfam_CoaE,superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_Nucleotidylyl transferase,HMMPfam_CTP_transf_2,HMMPfam_CoaE,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors BCOR 54880 genome.wustl.edu 36 X 39808066 39808066 + Missense_Mutation SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 39808066 39808066 C G SNP BCOR ENST00000378444 human ensembl 54_36p -1 known missense c.3586 p.V1196L 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors PRDM15 63977 genome.wustl.edu 36 21 42132807 42132807 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 21 42132807 42132807 G C SNP PRDM15 NM_022115 human genbank 54_36p -1 validated missense c.1963 p.P655A 0.879 NULL HMMSmart_SET,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2 - no_errors ZC3H13 23091 genome.wustl.edu 36 13 45461096 45461096 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 13 45461096 45461096 C T SNP ZC3H13 NM_015070 human genbank 54_36p -1 validated missense c.1082 p.R361Q 1.000 NULL superfamily_SSF90229,HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH - no_errors LRRC41 10489 genome.wustl.edu 36 1 46524760 46524760 + Splice_Site SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 46524760 46524760 T A SNP LRRC41 NM_006369 human genbank 54_36p -1 validated splice_site c.358-2 e4-2 1.000 - - - no_errors TNS3 64759 genome.wustl.edu 36 7 47375320 47375320 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 47375320 47375320 G T SNP TNS3 NM_022748 human genbank 54_36p -1 validated missense c.1448 p.P483H 0.999 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PTB - no_errors MEGF8 1954 genome.wustl.edu 36 19 47559123 47559123 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 47559123 47559123 C T SNP MEGF8 NM_001410 human genbank 54_36p +1 validated missense c.5941 p.P1981S 1.000 NULL superfamily_CUB,HMMSmart_CUB,HMMPfam_CUB,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_PSI,PatternScan_C_TYPE_LECTIN_1,HMMPfam_PSI,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,PatternScan_EGF_LAM_1,HMMSmart_EGF_Lam - no_errors PSG3 5671 genome.wustl.edu 36 19 47936367 47936367 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 47936367 47936367 G A SNP PSG3 NM_021016 human genbank 54_36p -1 validated missense c.10 p.L4F 0.004 HMMPfam_V-set HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2 - no_errors WDR6 11180 genome.wustl.edu 36 3 49027119 49027119 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 49027119 49027119 G C SNP WDR6 NM_018031 human genbank 54_36p +1 reviewed missense c.2866 p.V956L 0.076 superfamily_WD40_like superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors DAG1 1605 genome.wustl.edu 36 3 49543777 49543777 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 49543777 49543777 G T SNP DAG1 NM_004393 human genbank 54_36p +1 reviewed missense c.829 p.V277L 1.000 HMMPfam_DAG1,superfamily_SSF111006 HMMPfam_DAG1,superfamily_Cadherin,HMMSmart_CADG,superfamily_SSF111006 - no_errors C18orf26 284254 genome.wustl.edu 36 18 50409467 50409467 + Nonsense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 18 50409467 50409467 G T SNP C18orf26 NM_173629 human genbank 54_36p +1 predicted nonsense c.34 p.E12* 0.149 NULL NULL - no_errors SCN8A 6334 genome.wustl.edu 36 12 50449124 50449124 + Missense_Mutation SNP T T G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 50449124 50449124 T G SNP SCN8A NM_014191 human genbank 54_36p +1 validated missense c.3110 p.L1037W 1.000 HMMPfam_Na_trans_assoc superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_ODR_DC_2_1,HMMSmart_SM00015,HMMPfam_IQ - no_errors NUDT11 55190 genome.wustl.edu 36 X 51255956 51255956 + Silent SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 51255956 51255956 G A SNP NUDT11 NM_018159 human genbank 54_36p -1 validated silent c.81 p.S27 1.000 superfamily_NUDIX_hydrolase,HMMPfam_NUDIX superfamily_NUDIX_hydrolase,HMMPfam_NUDIX,PatternScan_NUDIX - no_errors LRRC66 339977 genome.wustl.edu 36 4 52556138 52556138 + Missense_Mutation SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 4 52556138 52556138 T C SNP LRRC66 NM_001024611 human genbank 54_36p -1 provisional missense c.1807 p.S603G 0.000 NULL superfamily_SSF52058,HMMPfam_LRR_1 - no_errors ECHDC2 55268 genome.wustl.edu 36 1 53137449 53137449 + Missense_Mutation SNP A A C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 53137449 53137449 A C SNP ECHDC2 NM_018281 human genbank 54_36p -1 validated missense c.645 p.I215M 0.998 superfamily_SSF52096 superfamily_SSF52096,HMMPfam_ECH - no_errors ERC2 26059 genome.wustl.edu 36 3 56016332 56016332 + Silent SNP T T G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 56016332 56016332 T G SNP ERC2 NM_015576 human genbank 54_36p -1 validated silent c.1978 p.R660 1.000 HMMPfam_Cast HMMPfam_Cast,superfamily_Prefoldin - no_errors ZNF614 80110 genome.wustl.edu 36 19 57212296 57212296 + Missense_Mutation SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 57212296 57212296 T C SNP ZNF614 NM_025040 human genbank 54_36p -1 validated missense c.367 p.I123V 0.001 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF665 79788 genome.wustl.edu 36 19 58359997 58359997 + Missense_Mutation SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 58359997 58359997 C G SNP ZNF665 NM_024733 human genbank 54_36p -1 provisional missense c.1558 p.G520R 0.956 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,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LILRA4 23547 genome.wustl.edu 36 19 59540051 59540051 + Silent SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 59540051 59540051 G A SNP LILRA4 NM_012276 human genbank 54_36p -1 reviewed silent c.1128 p.Y376 0.054 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors NLRP7 199713 genome.wustl.edu 36 19 60142348 60142348 + Silent SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 60142348 60142348 G A SNP NLRP7 NM_139176 human genbank 54_36p -1 reviewed silent c.1651 p.L551 0.029 NULL superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,superfamily_SSF52540,HMMPfam_NACHT,superfamily_SSF52047 - no_errors USP34 9736 genome.wustl.edu 36 2 61268866 61268866 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 61268866 61268866 G A SNP USP34 NM_014709 human genbank 54_36p -1 validated missense c.10516 p.H3506Y 1.000 NULL superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors INADL 10207 genome.wustl.edu 36 1 62228538 62228538 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 62228538 62228538 C T SNP INADL NM_176877 human genbank 54_36p +1 reviewed missense c.3781 p.R1261C 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 HMMPfam_L27_2,HMMSmart_SM00569,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors PRKCA 5578 genome.wustl.edu 36 17 62230492 62230492 + Nonsense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 17 62230492 62230492 C T SNP PRKCA NM_002737 human genbank 54_36p +1 reviewed nonsense c.1894 p.R632* 0.999 HMMSmart_SM00133,HMMPfam_Pkinase_C superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors ZNF587 84914 genome.wustl.edu 36 19 63053236 63053236 + Silent SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 19 63053236 63053236 G A SNP ZNF587 NM_032828 human genbank 54_36p +1 provisional silent c.18 p.P6 0.004 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors ZNF679 168417 genome.wustl.edu 36 7 63358052 63358052 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 63358052 63358052 G T SNP ZNF679 ENST00000255746 human ensembl 54_36p +1 known missense c.58 p.D20Y 0.024 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349 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 SYNE2 23224 genome.wustl.edu 36 14 63588153 63588153 + Missense_Mutation SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 14 63588153 63588153 A G SNP SYNE2 NM_182914 human genbank 54_36p +1 validated missense c.7769 p.D2590G 0.044 NULL superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors NRBF2 29982 genome.wustl.edu 36 10 64583968 64583968 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 10 64583968 64583968 G T SNP NRBF2 NM_030759 human genbank 54_36p +1 validated missense c.848 p.G283V 1.000 HMMPfam_DUF1875 HMMPfam_DUF1875 - no_errors LOC645430 645430 genome.wustl.edu 36 X 65211995 65211995 + RNA SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 65211995 65211995 T C SNP LOC645430 XR_016872 human genbank 54_36p -1 model rna NULL NULL 0.248 - - - pseudogene YTHDC1 91746 genome.wustl.edu 36 4 68878568 68878568 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 4 68878568 68878568 G C SNP YTHDC1 NM_001031732 human genbank 54_36p -1 validated missense c.1178 p.S393C 1.000 NULL HMMPfam_YTH - no_errors LOC340888 340888 genome.wustl.edu 36 10 69180300 69180300 + RNA SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 10 69180300 69180300 G A SNP LOC340888 XR_016984 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene ARR3 407 genome.wustl.edu 36 X 69414078 69414078 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 69414078 69414078 C A SNP ARR3 NM_004312 human genbank 54_36p +1 validated missense c.583 p.Q195K 1.000 superfamily_E set domains,HMMPfam_Arrestin_C superfamily_E set domains,HMMPfam_Arrestin_N,PatternScan_ARRESTINS,HMMPfam_Arrestin_C - no_errors HYDIN 54768 genome.wustl.edu 36 16 69457709 69457709 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 16 69457709 69457709 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.11332 p.A3778T 0.494 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZNF407 55628 genome.wustl.edu 36 18 70472924 70472924 + Nonsense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 18 70472924 70472924 C T SNP ZNF407 NM_017757 human genbank 54_36p +1 provisional nonsense c.961 p.R321* 0.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00451,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors PHKA1 5255 genome.wustl.edu 36 X 71729846 71729846 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 71729846 71729846 G T SNP PHKA1 NM_002637 human genbank 54_36p -1 validated missense c.3076 p.P1026T 1.000 HMMPfam_PHK_AB HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases - no_errors LRRC20 55222 genome.wustl.edu 36 10 71753647 71753647 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 10 71753647 71753647 G C SNP LRRC20 NM_207119 human genbank 54_36p -1 validated missense c.378 p.N126K 0.996 superfamily_L domain-like,HMMSmart_SM00369 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors PDE2A 5138 genome.wustl.edu 36 11 71966189 71966189 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 71966189 71966189 G A SNP PDE2A NM_002599 human genbank 54_36p -1 validated missense c.2713 p.R905C 1.000 superfamily_HD-domain/PDEase-like superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors XIST 7503 genome.wustl.edu 36 X 72985624 72985624 + RNA SNP A A T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 72985624 72985624 A T SNP XIST NR_001564 human genbank 54_36p -1 reviewed rna NULL NULL 0.115 - - - no_errors DCTN1 1639 genome.wustl.edu 36 2 74447126 74447126 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 74447126 74447126 G T SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed missense c.2596 p.L866M 0.971 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat - no_errors HIP1 3092 genome.wustl.edu 36 7 75011964 75011964 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 75011964 75011964 C A SNP HIP1 NM_005338 human genbank 54_36p -1 reviewed missense c.2731 p.A911S 0.999 superfamily_I/LWEQ domain (Pfam 01608),HMMSmart_SM00307,HMMPfam_I_LWEQ HMMPfam_ANTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273,superfamily_ARM repeat,superfamily_I/LWEQ domain (Pfam 01608),HMMSmart_SM00307,HMMPfam_I_LWEQ - no_errors ROBO2 6092 genome.wustl.edu 36 3 77695140 77695140 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 77695140 77695140 C T SNP ROBO2 NM_002942 human genbank 54_36p +1 reviewed missense c.1652 p.P551L 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors BHMT 635 genome.wustl.edu 36 5 78452047 78452047 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 78452047 78452047 C A SNP BHMT NM_001713 human genbank 54_36p +1 reviewed missense c.404 p.T135N 0.002 superfamily_S_methyl_trans,HMMPfam_S-methyl_trans superfamily_S_methyl_trans,HMMPfam_S-methyl_trans - no_errors PAPD4 167153 genome.wustl.edu 36 5 78976746 78976746 + Missense_Mutation SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 78976746 78976746 A G SNP PAPD4 NM_173797 human genbank 54_36p +1 validated missense c.796 p.I266V 1.000 superfamily_Nucleotidyltransferase superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc - no_errors LOC727874 727874 genome.wustl.edu 36 X 79703118 79703118 + RNA SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 79703118 79703118 G T SNP LOC727874 XR_042356 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene BRWD3 254065 genome.wustl.edu 36 X 79830228 79830228 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 79830228 79830228 C T SNP BRWD3 NM_153252 human genbank 54_36p -1 validated missense c.3860 p.R1287K 0.834 superfamily_Bromodomain HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors SCD5 79966 genome.wustl.edu 36 4 83776793 83776793 + Silent SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 4 83776793 83776793 G A SNP SCD5 NM_001037582 human genbank 54_36p -1 validated silent c.777 p.N259 0.257 HMMPfam_FA_desaturase HMMPfam_FA_desaturase,PatternScan_FATTY_ACID_DESATUR_1 - no_errors LOC645181 645181 genome.wustl.edu 36 5 84881216 84881216 + RNA SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 84881216 84881216 G A SNP LOC645181 XR_017382 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene POLR1A 25885 genome.wustl.edu 36 2 86123628 86123628 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 86123628 86123628 G A SNP POLR1A NM_015425 human genbank 54_36p -1 validated missense c.3337 p.R1113C 0.997 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb1_5 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb1_1,HMMSmart_SM00663,HMMPfam_RNA_pol_Rpb1_2,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_4,HMMPfam_RNA_pol_Rpb1_5 - no_errors DUSP6 1848 genome.wustl.edu 36 12 88267336 88267336 + Silent SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 88267336 88267336 T C SNP DUSP6 NM_001946 human genbank 54_36p -1 reviewed silent c.972 p.K324 1.000 superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195 superfamily_Rhodanese/Cell cycle control phosphatase,HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195 - no_errors AGAP11 119385 genome.wustl.edu 36 10 88759574 88759574 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 10 88759574 88759574 C T SNP AGAP11 NM_133447 human genbank 54_36p +1 validated missense c.1585 p.R529W 0.999 superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors RPS6KA5 9252 genome.wustl.edu 36 14 90456390 90456390 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 14 90456390 90456390 C T SNP RPS6KA5 NM_004755 human genbank 54_36p -1 validated missense c.719 p.S240N 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C - no_errors PABPC5 140886 genome.wustl.edu 36 X 90577705 90577705 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 90577705 90577705 C A SNP PABPC5 NM_080832 human genbank 54_36p +1 validated missense c.473 p.A158D 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMSmart_SM00361,HMMPfam_RRM_1 HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00361 - no_errors ARRDC3 57561 genome.wustl.edu 36 5 90706613 90706613 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 90706613 90706613 C T SNP ARRDC3 NM_020801 human genbank 54_36p -1 validated missense c.752 p.R251H 1.000 superfamily_Ig_E-set,HMMPfam_Arrestin_C HMMPfam_Arrestin_N,superfamily_Ig_E-set,HMMPfam_Arrestin_C - no_errors LOC100132302 0 genome.wustl.edu 36 X 91124511 91124511 + RNA SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 91124511 91124511 G T SNP LOC100132302 XR_038899 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LOC100132302 0 genome.wustl.edu 36 X 91124776 91124776 + RNA SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 91124776 91124776 T A SNP LOC100132302 XR_038899 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene C11orf54 28970 genome.wustl.edu 36 11 93126522 93126522 + Nonsense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 93126522 93126522 G T SNP C11orf54 NM_014039 human genbank 54_36p +1 predicted nonsense c.181 p.E61* 1.000 HMMPfam_DUF1907 HMMPfam_DUF1907 - no_errors CCDC41 51134 genome.wustl.edu 36 12 93321160 93321160 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 93321160 93321160 G C SNP CCDC41 NM_001042399 human genbank 54_36p -1 validated missense c.334 p.P112A 1.000 NULL NULL - no_errors GAS2L3 283431 genome.wustl.edu 36 12 99542755 99542755 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 99542755 99542755 G A SNP GAS2L3 NM_174942 human genbank 54_36p +1 provisional missense c.2041 p.D681N 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors UTP20 27340 genome.wustl.edu 36 12 100209700 100209700 + Missense_Mutation SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 100209700 100209700 A G SNP UTP20 NM_014503 human genbank 54_36p +1 validated missense c.941 p.E314G 0.967 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_DRIM - no_errors ADH5 128 genome.wustl.edu 36 4 100216921 100216921 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 4 100216921 100216921 C A SNP ADH5 NM_000671 human genbank 54_36p -1 reviewed missense c.521 p.C174F 1.000 superfamily_GroES-like superfamily_GroES-like,HMMPfam_ADH_N,PatternScan_ADH_ZINC,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N - no_errors SNX31 169166 genome.wustl.edu 36 8 101670323 101670323 + Missense_Mutation SNP A A T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 8 101670323 101670323 A T SNP SNX31 NM_152628 human genbank 54_36p -1 validated missense c.1039 p.F347I 1.000 NULL HMMSmart_SM00312,superfamily_PX domain,HMMPfam_PX - no_errors MMP1 4312 genome.wustl.edu 36 11 102172673 102172673 + Missense_Mutation SNP T T G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 102172673 102172673 T G SNP MMP1 NM_002421 human genbank 54_36p -1 reviewed missense c.557 p.Q186P 0.001 HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10 HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN - no_errors NACAP1 83955 genome.wustl.edu 36 8 102450829 102450829 + RNA SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 8 102450829 102450829 A G SNP NACAP1 NR_002182 human genbank 54_36p +1 provisional rna NULL NULL 1.000 - - - pseudogene PDGFD 80310 genome.wustl.edu 36 11 103303056 103303056 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 103303056 103303056 C T SNP PDGFD NM_025208 human genbank 54_36p -1 reviewed missense c.781 p.D261N 1.000 superfamily_Cystine-knot cytokines PatternScan_TONB_DEPENDENT_REC_1,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,superfamily_Cystine-knot cytokines,HMMPfam_PDGF - no_errors DKK2 27123 genome.wustl.edu 36 4 108064652 108064652 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 4 108064652 108064652 G A SNP DKK2 NM_014421 human genbank 54_36p -1 reviewed missense c.688 p.R230C 1.000 NULL HMMPfam_Dickkopf_N - no_errors COL4A1 1282 genome.wustl.edu 36 13 109602762 109602762 + Nonsense_Mutation SNP A A T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 13 109602762 109602762 A T SNP COL4A1 NM_001845 human genbank 54_36p -1 reviewed nonsense c.4848 p.C1616* 1.000 HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like HMMPfam_Collagen,superfamily_C-type lectin-like,HMMPfam_C4,HMMSmart_SM00111 - no_errors PPP1R3A 5506 genome.wustl.edu 36 7 113305085 113305085 + Missense_Mutation SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 113305085 113305085 A G SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.3298 p.F1100L 0.998 NULL HMMPfam_CBM_21 - no_errors LARP7 51574 genome.wustl.edu 36 4 113787818 113787818 + Missense_Mutation SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 4 113787818 113787818 A G SNP LARP7 NM_015454 human genbank 54_36p +1 validated missense c.661 p.K221E 1.000 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00715,HMMPfam_La,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_RRM_3" - no_errors HTR2C 3358 genome.wustl.edu 36 X 113871987 113871987 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 113871987 113871987 C A SNP HTR2C NM_000868 human genbank 54_36p +1 reviewed missense c.64 p.Q22K 0.996 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SLC31A1 1317 genome.wustl.edu 36 9 115060833 115060833 + Missense_Mutation SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 9 115060833 115060833 A G SNP SLC31A1 NM_001859 human genbank 54_36p +1 validated missense c.241 p.M81V 1.000 HMMPfam_Ctr HMMPfam_Ctr - no_errors AKNA 80709 genome.wustl.edu 36 9 116143687 116143687 + Missense_Mutation SNP T T G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 9 116143687 116143687 T G SNP AKNA ENST00000374075 human ensembl 54_36p -1 known missense c.1751 p.Q584P 0.057 NULL NULL - no_errors FAM26F 441168 genome.wustl.edu 36 6 116891502 116891502 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 6 116891502 116891502 G T SNP FAM26F NM_001010919 human genbank 54_36p +1 predicted missense c.889 p.V297L 0.000 NULL NULL - no_errors ATRNL1 26033 genome.wustl.edu 36 10 117144162 117144162 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 10 117144162 117144162 G C SNP ATRNL1 NM_207303 human genbank 54_36p +1 validated missense c.3179 p.C1060S 1.000 superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,HMMPfam_Laminin_EGF,HMMSmart_SM00180 superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_EGF_2,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,superfamily_Plexin repeat,HMMSmart_SM00423,HMMPfam_PSI,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1 - no_errors MLL 4297 genome.wustl.edu 36 11 117856163 117856163 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 117856163 117856163 G C SNP MLL NM_005933 human genbank 54_36p +1 validated missense c.3634 p.A1212P 1.000 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_RECR,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_FYRN,HMMSmart_SM00541,PatternScan_EF_HAND_1,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors SLC13A1 6561 genome.wustl.edu 36 7 122550526 122550526 + Splice_Site SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 122550526 122550526 C T SNP SLC13A1 NM_022444 human genbank 54_36p -1 validated splice_site c.1241-1 e12-1 1.000 - - - no_errors OR10S1 219873 genome.wustl.edu 36 11 123353070 123353070 + Missense_Mutation SNP A A T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 123353070 123353070 A T SNP OR10S1 NM_001004474 human genbank 54_36p -1 provisional missense c.539 p.L180Q 0.997 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors NCOR2 9612 genome.wustl.edu 36 12 123378080 123378080 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 123378080 123378080 C T SNP NCOR2 NM_006312 human genbank 54_36p -1 validated missense c.7032 p.M2344I 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding - no_errors DMBT1 1755 genome.wustl.edu 36 10 124392741 124392741 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 10 124392741 124392741 G C SNP DMBT1 NM_007329 human genbank 54_36p +1 reviewed missense c.7079 p.C2360S 1.000 HMMPfam_Zona_pellucida,HMMSmart_SM00241 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 - no_errors FSCN3 29999 genome.wustl.edu 36 7 127023143 127023143 + Nonsense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 127023143 127023143 G T SNP FSCN3 NM_020369 human genbank 54_36p +1 provisional nonsense c.691 p.E231* 1.000 superfamily_Actin_crosslink superfamily_Actin_crosslink,HMMPfam_Fascin - no_errors RICS 9743 genome.wustl.edu 36 11 128354020 128354020 + Missense_Mutation SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 128354020 128354020 T A SNP RICS NM_014715 human genbank 54_36p -1 validated missense c.888 p.R296S 1.000 NULL superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP - no_errors ADAMTS19 171019 genome.wustl.edu 36 5 129005511 129005511 + Silent SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 129005511 129005511 C T SNP ADAMTS19 NM_133638 human genbank 54_36p +1 reviewed silent c.1813 p.L605 0.987 HMMSmart_SM00608 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors CPA2 1358 genome.wustl.edu 36 7 129706633 129706633 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 7 129706633 129706633 G T SNP CPA2 NM_001869 human genbank 54_36p +1 reviewed missense c.876 p.K292N 1.000 superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14 superfamily_Prot_inh_propept,HMMPfam_Propep_M14,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2 - no_errors ADAMTS8 11095 genome.wustl.edu 36 11 129789678 129789678 + Silent SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 129789678 129789678 T A SNP ADAMTS8 NM_007037 human genbank 54_36p -1 reviewed silent c.1524 p.S508 0.952 HMMSmart_SM00608 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors KLHL3 26249 genome.wustl.edu 36 5 136989441 136989441 + Missense_Mutation SNP A A T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 136989441 136989441 A T SNP KLHL3 NM_017415 human genbank 54_36p -1 validated missense c.1635 p.D545E 1.000 superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 - no_errors BRD8 10902 genome.wustl.edu 36 5 137523181 137523181 + Missense_Mutation SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 137523181 137523181 C G SNP BRD8 NM_139199 human genbank 54_36p -1 reviewed missense c.2539 p.V847L 1.000 NULL superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors EGR1 1958 genome.wustl.edu 36 5 137829422 137829422 + Missense_Mutation SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 137829422 137829422 C G SNP EGR1 NM_001964 human genbank 54_36p +1 reviewed missense c.73 p.H25D 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PCDHGA6 56109 genome.wustl.edu 36 5 140735221 140735221 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 140735221 140735221 G A SNP PCDHGA6 NM_018919 human genbank 54_36p +1 reviewed missense c.1387 p.E463K 0.998 superfamily_Cadherin-like,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHGA8 9708 genome.wustl.edu 36 5 140754310 140754310 + Silent SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 140754310 140754310 A G SNP PCDHGA8 NM_032088 human genbank 54_36p +1 reviewed silent c.1746 p.A582 0.978 superfamily_Cadherin-like,HMMPfam_Cadherin HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors SPINK5L2 408187 genome.wustl.edu 36 5 147529508 147529508 + Missense_Mutation SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 147529508 147529508 T A SNP SPINK5L2 NM_001001325 human genbank 54_36p +1 provisional missense c.20 p.V7E 0.006 NULL superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_1,PatternScan_KAZAL - no_errors ARSI 340075 genome.wustl.edu 36 5 149657437 149657437 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 149657437 149657437 C T SNP ARSI NM_001012301 human genbank 54_36p -1 validated missense c.1243 p.V415M 0.980 HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors FLG 2312 genome.wustl.edu 36 1 150550377 150550377 + Splice_Site SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 150550377 150550377 C A SNP FLG ENST00000271820 human ensembl 54_36p -1 known splice_site c.1661+1 e3+1 0.001 - - - no_stop_codon FLG 2312 genome.wustl.edu 36 1 150550879 150550879 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 150550879 150550879 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.3107 p.R1036H 0.003 HMMPfam_Filaggrin PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473 - no_errors C6orf211 79624 genome.wustl.edu 36 6 151817385 151817385 + Silent SNP A A C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 6 151817385 151817385 A C SNP C6orf211 NM_024573 human genbank 54_36p +1 predicted silent c.51 p.A17 0.984 NULL HMMPfam_DUF89,superfamily_DUF89 - no_errors ATP8B2 57198 genome.wustl.edu 36 1 152576479 152576479 + Missense_Mutation SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 152576479 152576479 T C SNP ATP8B2 NM_020452 human genbank 54_36p +1 reviewed missense c.968 p.I323T 1.000 superfamily_SSF81665,HMMPfam_E1-E2_ATPase superfamily_SSF81665,superfamily_SSF81653,HMMPfam_E1-E2_ATPase,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3 - no_errors ISG20L2 81875 genome.wustl.edu 36 1 154963953 154963953 + Missense_Mutation SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 154963953 154963953 C T SNP ISG20L2 NM_030980 human genbank 54_36p -1 provisional missense c.116 p.G39D 0.647 NULL superfamily_RNaseH_fold,HMMSmart_EXOIII,HMMPfam_Exonuc_X-T - no_errors GPR149 344758 genome.wustl.edu 36 3 155629847 155629847 + Silent SNP C C T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 155629847 155629847 C T SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional silent c.252 p.S84 0.630 NULL NULL - no_errors GMPS 8833 genome.wustl.edu 36 3 157125828 157125828 + Silent SNP A A G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 157125828 157125828 A G SNP GMPS NM_003875 human genbank 54_36p +1 reviewed silent c.1539 p.P513 1.000 superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_GMP_synt_C 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 GFM1 85476 genome.wustl.edu 36 3 159855109 159855109 + Missense_Mutation SNP C C G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 159855109 159855109 C G SNP GFM1 NM_024996 human genbank 54_36p +1 reviewed missense c.1078 p.L360V 1.000 superfamily_Translat_factor superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C - no_errors LPA 4018 genome.wustl.edu 36 6 160927554 160927554 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 6 160927554 160927554 G A SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.4046 p.T1349M 0.022 superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors RGS4 5999 genome.wustl.edu 36 1 161309944 161309944 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 161309944 161309944 G A SNP RGS4 NM_001102445 human genbank 54_36p +1 reviewed missense c.577 p.E193K 1.000 superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS - no_errors SI 6476 genome.wustl.edu 36 3 166236892 166236892 + Missense_Mutation SNP A A C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 166236892 166236892 A C SNP SI NM_001041 human genbank 54_36p -1 validated missense c.2494 p.W832G 1.000 NULL HMMSmart_SM00018,superfamily_Trefoil,HMMPfam_Trefoil,PatternScan_P_TREFOIL,HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2 - no_errors DOCK2 1794 genome.wustl.edu 36 5 169387499 169387499 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 169387499 169387499 G A SNP DOCK2 NM_004946 human genbank 54_36p +1 validated missense c.3436 p.D1146N 0.999 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c - no_errors DOCK2 1794 genome.wustl.edu 36 5 169427236 169427236 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 5 169427236 169427236 G T SNP DOCK2 NM_004946 human genbank 54_36p +1 validated missense c.4612 p.A1538S 1.000 superfamily_Cytochrome c HMMSmart_SM00326,superfamily_SH3-domain,superfamily_Cytochrome c,HMMPfam_SH3_2 - no_errors TLK1 9874 genome.wustl.edu 36 2 171614703 171614703 + Missense_Mutation SNP T T C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 171614703 171614703 T C SNP TLK1 NM_012290 human genbank 54_36p -1 validated missense c.847 p.T283A 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors TNR 7143 genome.wustl.edu 36 1 173595417 173595417 + Silent SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 173595417 173595417 T A SNP TNR NM_003285 human genbank 54_36p -1 validated silent c.2928 p.P976 0.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like - no_errors NDUFB5 4711 genome.wustl.edu 36 3 180816469 180816469 + Missense_Mutation SNP T T A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 180816469 180816469 T A SNP NDUFB5 NM_002492 human genbank 54_36p +1 reviewed missense c.218 p.F73Y 1.000 HMMPfam_NDUF_B5 HMMPfam_NDUF_B5 - no_errors HTR3C 170572 genome.wustl.edu 36 3 185257382 185257382 + Missense_Mutation SNP G G A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 3 185257382 185257382 G A SNP HTR3C NM_130770 human genbank 54_36p +1 reviewed missense c.415 p.G139S 0.000 superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors ZNF804A 91752 genome.wustl.edu 36 2 185511597 185511597 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 185511597 185511597 C A SNP ZNF804A NM_194250 human genbank 54_36p +1 provisional missense c.3229 p.P1077T 0.001 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NBEAL1 65065 genome.wustl.edu 36 2 203784057 203784057 + Silent SNP T T G novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 203784057 203784057 T G SNP NBEAL1 NM_001099273 human genbank 54_36p +1 validated silent c.3960 p.S1320 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors IL24 11009 genome.wustl.edu 36 1 205139330 205139330 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 205139330 205139330 G T SNP IL24 NM_006850 human genbank 54_36p +1 reviewed missense c.87 p.Q29H 0.003 NULL superfamily_4_helix_cytokine,PatternScan_INTERLEUKIN_10 - no_errors CR1 1378 genome.wustl.edu 36 1 205763713 205763713 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 205763713 205763713 G T SNP CR1 NM_000651 human genbank 54_36p +1 reviewed missense c.622 p.V208L 0.075 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors PLXNA2 5362 genome.wustl.edu 36 1 206273301 206273301 + Missense_Mutation SNP G G T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 206273301 206273301 G T SNP PLXNA2 NM_025179 human genbank 54_36p -1 reviewed missense c.5041 p.L1681I 1.000 HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors PIP5K3 200576 genome.wustl.edu 36 2 208871627 208871627 + Missense_Mutation SNP A A C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 208871627 208871627 A C SNP PIP5K3 NM_015040 human genbank 54_36p +1 validated missense c.929 p.N310T 1.000 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049,superfamily_GroEL-intermediate domain like,HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" - no_errors USH2A 7399 genome.wustl.edu 36 1 213911102 213911102 + Missense_Mutation SNP C C A novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 213911102 213911102 C A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.13968 p.L4656F 0.294 HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors SLC23A3 151295 genome.wustl.edu 36 2 219742517 219742517 + Missense_Mutation SNP G G C novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 219742517 219742517 G C SNP SLC23A3 NM_144712 human genbank 54_36p -1 validated missense c.290 p.S97C 0.845 HMMPfam_Xan_ur_permease HMMPfam_Xan_ur_permease - no_errors UGT1A9 54600 genome.wustl.edu 36 2 234245713 234245713 + Nonsense_Mutation SNP A A T novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 2 234245713 234245713 A T SNP UGT1A9 NM_021027 human genbank 54_36p +1 reviewed nonsense c.394 p.K132* 0.001 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors PLEKHA7 144100 genome.wustl.edu 36 11 16767914 16767920 + Frame_Shift_Del DEL CTGCTTT CTGCTTT - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 CTGCTTT CTGCTTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 11 16767914 16767920 CTGCTTT - DEL PLEKHA7 NM_175058 human genbank 54_36p -1 provisional frame_shift_del c.3140_3134 p.E1045fs 0.974:0.972:0.982:0.976:0.961:0.929:0.939 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 (deletion:cds_exon[16767898,16768001]) no_errors SMG1 23049 genome.wustl.edu 36 16 18753767 18753769 + In_Frame_Del DEL CTT CTT - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 CTT CTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 16 18753767 18753769 CTT - DEL SMG1 NM_015092 human genbank 54_36p -1 reviewed in_frame_del c.8278_8276 p.E2759in_frame_del 1.000:1.000:1.000 NULL superfamily_ARM repeat,HMMPfam_HEAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC (deletion:cds_exon[18753715,18753987]) no_errors HLA-80 0 genome.wustl.edu 36 6 30034280 30034294 + Splice_Site DEL GGGACAGTACCCAGG GGGACAGTACCCAGG - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 GGGACAGTACCCAGG GGGACAGTACCCAGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 6 30034280 30034294 GGGACAGTACCCAGG - DEL HLA-80 ENST00000407786 human ensembl 54_36p +1 known splice_site_del c.NULL NULL 0.051:0.152:0.703:0.880:0.949:0.974:0.984:0.987:0.986:0.987:0.984:0.975:0.951:0.934:0.879 - - (deletion:intron[30034132,30034280], utr_exon[30034281,30034326]) no_coding_region:pseudogene LOC729042 729042 genome.wustl.edu 36 14 36116777 36116777 + RNA DEL G G - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 14 36116777 36116777 G - DEL LOC729042 XR_015435 human genbank 54_36p -1 model rna NULL NULL 0.907 - - (deletion:rna[36116372,36116979]) pseudogene CASK 8573 genome.wustl.edu 36 X 41275272 41275285 + Frame_Shift_Del DEL TCCCATACATCGCA TCCCATACATCGCA - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 TCCCATACATCGCA TCCCATACATCGCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 41275272 41275285 TCCCATACATCGCA - DEL CASK NM_003688 human genbank 54_36p -1 validated frame_shift_del c.2437_2424 p.A809fs 1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:0.999:0.896:1.000:1.000:1.000 superfamily_SSF52540,HMMSmart_GuKc,HMMPfam_Guanylate_kin 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 (deletion:cds_exon[41275204,41275406]) no_errors FAM75A6 0 genome.wustl.edu 36 9 43567918 43567922 + Frame_Shift_Del DEL AGACA AGACA - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 AGACA AGACA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 9 43567918 43567922 AGACA - DEL FAM75A6 ENST00000332857 human ensembl 54_36p -1 known frame_shift_del c.765_761 p.L254fs 0.000:0.000:0.001:0.000:0.000 NULL NULL (deletion:cds_exon[43564651,43568374]) no_errors JARID1C 8242 genome.wustl.edu 36 X 53256634 53256642 + In_Frame_Del DEL AAGGCTGAG AAGGCTGAG - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 AAGGCTGAG AAGGCTGAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 X 53256634 53256642 AAGGCTGAG - DEL JARID1C NM_004187 human genbank 54_36p -1 reviewed in_frame_del c.1532_1524 p.SAF509in_frame_del 1.000:1.000:0.946:1.000:1.000:0.983:1.000:1.000:1.000 HMMSmart_SM00558,HMMPfam_JmjC HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1 (deletion:cds_exon[53256583,53256764]) no_errors OR6C2 341416 genome.wustl.edu 36 12 54132551 54132551 + Frame_Shift_Del DEL C C - novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 12 54132551 54132551 C - DEL OR6C2 NM_054105 human genbank 54_36p +1 provisional frame_shift_del c.287 p.S97fs 0.001 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 (deletion:cds_exon[54132265,54133203]) no_errors LPAR3 23566 genome.wustl.edu 36 1 85052302 85052303 + In_Frame_Ins INS - - GAT novel unknown TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8ac8f7f3-99ca-438c-be13-1f05dec3b794 5a84bd05-0cd8-41bd-bfef-017a0c61c573 1 85052302 85052303 - GAT INS LPAR3 NM_012152 human genbank 54_36p -1 reviewed in_frame_ins c.877_876 p.292in_frame_insI 1.000:1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors