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 BTBD12 84464 genome.wustl.edu 36 16 3596527 3596527 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 16 3596527 3596527 G A SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional missense c.709 p.R237W 0.000 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 - no_errors KIAA2026 158358 genome.wustl.edu 36 9 5911844 5911844 + Missense_Mutation SNP G T T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 9 5911844 5911844 G T SNP KIAA2026 NM_001017969 human genbank 54_36p -1 validated missense c.4152 p.H1384Q 0.073 NULL superfamily_Bromodomain - no_errors TP53 7157 genome.wustl.edu 36 17 7517839 7517839 + Missense_Mutation SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 17 7517839 7517839 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.824 p.C275Y 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 CD163 9332 genome.wustl.edu 36 12 7531701 7531701 + Missense_Mutation SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 12 7531701 7531701 C T SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.1670 p.C557Y 0.989 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1 - no_errors MAP2K4 6416 genome.wustl.edu 36 17 11957335 11957335 + Missense_Mutation SNP G G T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 17 11957335 11957335 G T SNP MAP2K4 NM_003010 human genbank 54_36p +1 reviewed missense c.746 p.G249V 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 - no_errors GPRC5A 9052 genome.wustl.edu 36 12 12953092 12953092 + Silent SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 12 12953092 12953092 C T SNP GPRC5A NM_003979 human genbank 54_36p +1 reviewed silent c.642 p.Y214 0.058 HMMPfam_7tm_3 HMMPfam_7tm_3 - no_errors DDA1 79016 genome.wustl.edu 36 19 17286149 17286149 + Silent SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 19 17286149 17286149 C T SNP DDA1 NM_024050 human genbank 54_36p +1 validated silent c.87 p.N29 1.000 HMMPfam_DDA1 HMMPfam_DDA1 - no_errors LOC100129389 0 genome.wustl.edu 36 22 18757320 18757320 + Missense_Mutation SNP A A G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 22 18757320 18757320 A G SNP LOC100129389 XM_001726515 human genbank 54_36p +1 model missense c.298 p.T100A 0.000 NULL NULL - no_errors MKRN3 7681 genome.wustl.edu 36 15 21363428 21363428 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 15 21363428 21363428 G A SNP MKRN3 NM_005664 human genbank 54_36p +1 reviewed missense c.1406 p.R469Q 0.991 NULL HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors LOC100128337 0 genome.wustl.edu 36 13 23594112 23594112 + RNA SNP T T A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 13 23594112 23594112 T A SNP LOC100128337 XR_037222 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TM9SF1 10548 genome.wustl.edu 36 14 23729507 23729507 + Missense_Mutation SNP T T C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 14 23729507 23729507 T C SNP TM9SF1 NM_006405 human genbank 54_36p -1 validated missense c.1346 p.N449S 1.000 HMMPfam_EMP70 HMMPfam_EMP70 - no_errors C1orf128 57095 genome.wustl.edu 36 1 23986379 23986379 + Missense_Mutation SNP A A C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 23986379 23986379 A C SNP C1orf128 NM_020362 human genbank 54_36p +1 validated missense c.562 p.N188H 1.000 NULL HMMPfam_DUF1000 - no_errors TMEM57 55219 genome.wustl.edu 36 1 25645861 25645861 + Missense_Mutation SNP C C A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 25645861 25645861 C A SNP TMEM57 NM_018202 human genbank 54_36p +1 validated missense c.102 p.F34L 1.000 HMMPfam_Macoilin HMMPfam_Macoilin,superfamily_Prefoldin - no_errors SCAND3 114821 genome.wustl.edu 36 6 28650962 28650962 + Missense_Mutation SNP C C G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 6 28650962 28650962 C G SNP SCAND3 NM_052923 human genbank 54_36p -1 provisional missense c.1499 p.W500S 0.590 superfamily_RNaseH_fold,HMMPfam_rve HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC - no_errors GHRHR 2692 genome.wustl.edu 36 7 30983426 30983426 + Missense_Mutation SNP C C A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 7 30983426 30983426 C A SNP GHRHR NM_000823 human genbank 54_36p +1 reviewed missense c.1110 p.F370L 0.249 superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors SLC26A8 116369 genome.wustl.edu 36 6 36035233 36035233 + Silent SNP A A G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 6 36035233 36035233 A G SNP SLC26A8 NM_052961 human genbank 54_36p -1 reviewed silent c.1845 p.D615 0.081 HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa HMMPfam_Sulfate_transp,HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa - no_errors EIF3L 51386 genome.wustl.edu 36 22 36601870 36601870 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 22 36601870 36601870 G A SNP EIF3L NM_016091 human genbank 54_36p +1 validated missense c.983 p.R328H 1.000 HMMPfam_Paf67 HMMPfam_Paf67 - no_errors CLEC14A 161198 genome.wustl.edu 36 14 37793569 37793569 + Silent SNP A A G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 14 37793569 37793569 A G SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional silent c.1410 p.D470 0.606 NULL PatternScan_EGF_1,PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMSmart_EGF,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors KLB 152831 genome.wustl.edu 36 4 39115918 39115918 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 4 39115918 39115918 G T SNP KLB NM_175737 human genbank 54_36p +1 validated nonsense c.1513 p.E505* 0.581 HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2,HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat - no_errors LCA5L 150082 genome.wustl.edu 36 21 39699715 39699715 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 21 39699715 39699715 G A SNP LCA5L NM_152505 human genbank 54_36p -1 validated missense c.1976 p.S659L 0.230 NULL NULL - no_errors TP53TG5 27296 genome.wustl.edu 36 20 43439643 43439643 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 20 43439643 43439643 C A SNP TP53TG5 NM_014477 human genbank 54_36p -1 validated nonsense c.73 p.E25* 0.016 NULL NULL - no_errors SLC12A5 57468 genome.wustl.edu 36 20 44097026 44097026 + Missense_Mutation SNP A A C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 20 44097026 44097026 A C SNP SLC12A5 NM_020708 human genbank 54_36p +1 reviewed missense c.85 p.I29L 1.000 NULL HMMPfam_AA_permease - no_errors PACSIN3 29763 genome.wustl.edu 36 11 47157661 47157661 + Missense_Mutation SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 11 47157661 47157661 C T SNP PACSIN3 NM_016223 human genbank 54_36p -1 provisional missense c.656 p.R219H 1.000 NULL HMMPfam_FCH,HMMSmart_FCH,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors CD177 57126 genome.wustl.edu 36 19 48558289 48558289 + Missense_Mutation SNP G A A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 19 48558289 48558289 G A SNP CD177 NM_020406 human genbank 54_36p +1 validated missense c.1291 p.G431R 0.013 NULL superfamily_Snake toxin-like,HMMPfam_UPAR_LY6 - pseudogene LOC387770 387770 genome.wustl.edu 36 11 49823750 49823750 + RNA SNP A A C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 11 49823750 49823750 A C SNP LOC387770 XR_017307 human genbank 54_36p -1 model rna NULL NULL 0.106 - - - pseudogene LILRA6 79168 genome.wustl.edu 36 19 59434669 59434669 + Missense_Mutation SNP C C G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 19 59434669 59434669 C G SNP LILRA6 NM_024318 human genbank 54_36p -1 validated missense c.1418 p.R473T 0.002 NULL superfamily_SSF48726,HMMPfam_ig,HMMSmart_IG - no_errors FIZ1 84922 genome.wustl.edu 36 19 60800916 60800916 + Missense_Mutation SNP G A A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 19 60800916 60800916 G A SNP FIZ1 NM_032836 human genbank 54_36p -1 reviewed missense c.128 p.A43V 0.714 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,PatternScan_2FE2S_FER_1 - no_errors NFAT5 10725 genome.wustl.edu 36 16 68283385 68283385 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 16 68283385 68283385 G A SNP NFAT5 NM_138713 human genbank 54_36p +1 reviewed missense c.2156 p.S719N 0.998 NULL superfamily_p53-like transcription factors,HMMPfam_RHD,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG - no_errors MFSD11 79157 genome.wustl.edu 36 17 72285901 72285901 + Missense_Mutation SNP T T C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 17 72285901 72285901 T C SNP MFSD11 NM_024311 human genbank 54_36p +1 provisional missense c.1222 p.Y408H 1.000 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_DUF895 - no_errors CLIP2 7461 genome.wustl.edu 36 7 73390934 73390934 + Silent SNP C T T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 7 73390934 73390934 C T SNP CLIP2 NM_003388 human genbank 54_36p +1 reviewed silent c.342 p.D114 0.973 superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors KARS 3735 genome.wustl.edu 36 16 74222983 74222983 + Splice_Site SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 16 74222983 74222983 C T SNP KARS ENST00000378668 human ensembl 54_36p -1 known splice_site c.696+1 e8+1 1.000 - - - no_errors E2F7 144455 genome.wustl.edu 36 12 75947857 75947857 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 12 75947857 75947857 G A SNP E2F7 NM_203394 human genbank 54_36p -1 validated missense c.1769 p.P590L 0.020 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_E2F_TDP" - no_errors IQGAP2 10788 genome.wustl.edu 36 5 75968755 75968755 + Missense_Mutation SNP G G C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 5 75968755 75968755 G C SNP IQGAP2 NM_006633 human genbank 54_36p +1 validated missense c.1921 p.E641Q 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_WW_DOMAIN_1,HMMSmart_SM00015,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_GTPase activation domain GAP,HMMSmart_SM00323,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C - no_errors ARNT2 9915 genome.wustl.edu 36 15 78654456 78654456 + Missense_Mutation SNP C C G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 15 78654456 78654456 C G SNP ARNT2 NM_014862 human genbank 54_36p +1 reviewed missense c.1463 p.S488C 1.000 NULL superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086 - no_errors FZD4 8322 genome.wustl.edu 36 11 86339953 86339953 + Missense_Mutation SNP G G C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 11 86339953 86339953 G C SNP FZD4 NM_012193 human genbank 54_36p -1 reviewed missense c.1493 p.A498G 1.000 HMMPfam_Frizzled HMMPfam_Fz,superfamily_Frizzled_Cys-rich,HMMSmart_FRI,HMMPfam_Frizzled - no_errors DBF4 10926 genome.wustl.edu 36 7 87375139 87375139 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 7 87375139 87375139 C T SNP DBF4 NM_006716 human genbank 54_36p +1 validated nonsense c.1750 p.R584* 0.998 NULL HMMPfam_zf-DBF,HMMSmart_SM00586 - no_errors KCNK10 54207 genome.wustl.edu 36 14 87806874 87806874 + Missense_Mutation SNP A A G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 14 87806874 87806874 A G SNP KCNK10 NM_138318 human genbank 54_36p -1 reviewed missense c.13 p.F5L 0.009 NULL superfamily_SSF81324,HMMPfam_Ion_trans_2 - no_errors ASB4 51666 genome.wustl.edu 36 7 94953347 94953347 + Missense_Mutation SNP A A G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 7 94953347 94953347 A G SNP ASB4 NM_016116 human genbank 54_36p +1 reviewed missense c.128 p.D43G 1.000 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_SOCS_box - no_errors ELOVL3 83401 genome.wustl.edu 36 10 103978228 103978228 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 10 103978228 103978228 C T SNP ELOVL3 NM_152310 human genbank 54_36p +1 provisional nonsense c.298 p.Q100* 1.000 HMMPfam_ELO HMMPfam_ELO,PatternScan_ELO - no_errors LIG4 3981 genome.wustl.edu 36 13 107659673 107659673 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 13 107659673 107659673 G A SNP LIG4 NM_001098268 human genbank 54_36p -1 reviewed missense c.1945 p.L649F 1.000 NULL HMMPfam_DNA_ligase_A_N,superfamily_SSF56091,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A1,PatternScan_DNA_LIGASE_A2,HMMPfam_DNA_ligase_A_C,HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT - no_errors KCNA3 3738 genome.wustl.edu 36 1 111018629 111018629 + Missense_Mutation SNP T T A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 111018629 111018629 T A SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.326 p.N109I 1.000 superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans - no_errors SLC6A14 11254 genome.wustl.edu 36 X 115502913 115502913 + Missense_Mutation SNP T T G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce X 115502913 115502913 T G SNP SLC6A14 NM_007231 human genbank 54_36p +1 validated missense c.1725 p.I575M 1.000 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors CLIP1 6249 genome.wustl.edu 36 12 121405813 121405813 + Splice_Site SNP C C G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 12 121405813 121405813 C G SNP CLIP1 NM_002956 human genbank 54_36p -1 validated splice_site c.1006-1 e5-1 1.000 - - - no_errors SEC23IP 11196 genome.wustl.edu 36 10 121667376 121667376 + Missense_Mutation SNP T T A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 10 121667376 121667376 T A SNP SEC23IP NM_007190 human genbank 54_36p +1 reviewed missense c.1583 p.F528Y 1.000 NULL superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD - no_errors ADAMTS19 171019 genome.wustl.edu 36 5 128892184 128892184 + Missense_Mutation SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 5 128892184 128892184 G A SNP ADAMTS19 NM_133638 human genbank 54_36p +1 reviewed missense c.1225 p.G409S 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain" "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 CEL 1056 genome.wustl.edu 36 9 134929677 134929677 + Silent SNP T C C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 9 134929677 134929677 T C SNP CEL NM_001807 human genbank 54_36p +1 validated silent c.141 p.G47 0.112 HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1 - no_errors GYG1 2992 genome.wustl.edu 36 3 150227311 150227311 + Silent SNP G G C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 3 150227311 150227311 G C SNP GYG1 NM_004130 human genbank 54_36p +1 provisional silent c.954 p.S318 0.998 NULL superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8 - no_errors LCE1C 353133 genome.wustl.edu 36 1 151044434 151044434 + Missense_Mutation SNP C T T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 151044434 151044434 C T SNP LCE1C NM_178351 human genbank 54_36p -1 validated missense c.145 p.G49R 0.992 NULL NULL - no_errors GATAD2B 57459 genome.wustl.edu 36 1 152067143 152067143 + Missense_Mutation SNP T C C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 152067143 152067143 T C SNP GATAD2B NM_020699 human genbank 54_36p -1 validated missense c.305 p.D102G 1.000 NULL PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716,HMMPfam_GATA - no_errors OR10K2 391107 genome.wustl.edu 36 1 156656467 156656467 + Missense_Mutation SNP C C A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 156656467 156656467 C A SNP OR10K2 NM_001004476 human genbank 54_36p -1 provisional missense c.814 p.A272S 0.008 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors DUSP12 11266 genome.wustl.edu 36 1 159986308 159986308 + Missense_Mutation SNP G G C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 159986308 159986308 G C SNP DUSP12 NM_007240 human genbank 54_36p +1 reviewed missense c.93 p.Q31H 0.958 superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc - no_errors COBLL1 22837 genome.wustl.edu 36 2 165308553 165308553 + Silent SNP T T C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 2 165308553 165308553 T C SNP COBLL1 NM_014900 human genbank 54_36p -1 validated silent c.120 p.V40 0.974 HMMPfam_Cobl HMMPfam_Cobl - no_errors WDR49 151790 genome.wustl.edu 36 3 168776503 168776503 + Missense_Mutation SNP T T C novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 3 168776503 168776503 T C SNP WDR49 NM_178824 human genbank 54_36p -1 provisional missense c.383 p.N128S 0.998 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179349406 179349406 + Silent SNP C C T novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 2 179349406 179349406 C T SNP TTN NM_133379 human genbank 54_36p -1 reviewed silent c.5430 p.R1810 0.996 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors IRF6 3664 genome.wustl.edu 36 1 208041248 208041248 + Missense_Mutation SNP C C G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 208041248 208041248 C G SNP IRF6 NM_006147 human genbank 54_36p -1 reviewed missense c.134 p.R45P 0.999 HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3 - no_errors ALPP 250 genome.wustl.edu 36 2 232952764 232952764 + Silent SNP G G A novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 2 232952764 232952764 G A SNP ALPP NM_001632 human genbank 54_36p +1 reviewed silent c.531 p.S177 0.918 superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE - no_errors RYR2 6262 genome.wustl.edu 36 1 235844670 235844670 + Silent SNP A G G novel unknown TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec119114-e654-480b-a6ef-282992d76708 d95e281c-8521-42b7-922a-067244a4fcce 1 235844670 235844670 A G SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed silent c.5619 p.A1873 0.004 NULL HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors